Gonçalo Abecasis
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Biomedical researcher
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Gonçalo Abecasisbiology Degrees
Biology
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Computational Biology
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Genetics
#167
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#206
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Biology
Gonçalo Abecasis's Degrees
- Bachelors Biomedical Sciences University of Porto
Why Is Gonçalo Abecasis Influential?
(Suggest an Edit or Addition)According to Wikipedia, Gonçalo Rocha Abecasis is a Portuguese American biomedical researcher at the University of Michigan and was chair of the Department of Biostatistics in the School of Public Health. He leads a group at the Center for Statistical Genetics in the Department of Biostatistics, where he is also the Felix E. Moore Collegiate Professor of Biostatistics and director of the Michigan Genomic Initiative. His group develops statistical tools to analyze the genetics of human disease.
Gonçalo Abecasis's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The Sequence Alignment/Map format and SAMtools (2009) (42331)
- A global reference for human genetic variation (2015) (11857)
- The variant call format and VCFtools (2011) (9013)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- A map of human genome variation from population-scale sequencing (2010) (6496)
- Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
- A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
- METAL: fast and efficient meta-analysis of genomewide association scans (2010) (3721)
- Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
- Merlin—rapid analysis of dense genetic maps using sparse gene flow trees (2002) (3486)
- Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
- Genome-wide association studies for complex traits: consensus, uncertainty and challenges (2008) (2939)
- A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants (2007) (2840)
- Discovery and Refinement of Loci Associated with Lipid Levels (2013) (2475)
- LocusZoom: regional visualization of genome-wide association scan results (2010) (2373)
- Next-generation genotype imputation service and methods (2016) (2190)
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
- Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
- MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes (2010) (2008)
- Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study (2012) (2002)
- Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
- Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
- Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (2008) (1882)
- Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes (2012) (1839)
- Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
- Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
- Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
- Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits (2007) (1641)
- Fast and accurate genotype imputation in genome-wide association studies through pre-phasing (2012) (1632)
- Newly identified loci that influence lipid concentrations and risk of coronary artery disease (2008) (1626)
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes (2012) (1604)
- Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma (2007) (1493)
- A note on exact tests of Hardy-Weinberg equilibrium. (2005) (1392)
- Common variants at 30 loci contribute to polygenic dyslipidemia (2009) (1380)
- Replicating genotype–phenotype associations (2007) (1367)
- Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies (2006) (1302)
- New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
- Genome-wide association study identifies eight loci associated with blood pressure (2009) (1225)
- Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
- Reference-based phasing using the Haplotype Reference Consortium panel (2016) (1082)
- Genomewide Scan Reveals Association of Psoriasis with IL-23 and NF-κB Pathways (2008) (1070)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
- A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants (2015) (1024)
- A genome-wide association study of global gene expression (2007) (1021)
- Genotype imputation. (2009) (1013)
- Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility (2014) (933)
- The genetic architecture of type 2 diabetes (2016) (927)
- Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2018) (914)
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
- Mapping complex disease traits with global gene expression (2009) (851)
- Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants (2012) (849)
- Rare-variant association analysis: study designs and statistical tests. (2014) (808)
- Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (2014) (799)
- GOLD-Graphical Overview of Linkage Disequilibrium (2000) (797)
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program (2019) (785)
- Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
- Variants in MTNR1B influence fasting glucose levels (2009) (742)
- Seven New Loci Associated with Age-Related Macular Degeneration (2013) (741)
- Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence (2018) (705)
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People (2012) (691)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
- A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease (2011) (638)
- Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies (2017) (633)
- Identification of ten loci associated with height highlights new biological pathways in human growth (2008) (626)
- Meta-analysis and imputation refines the association of 15q25 with smoking quantity (2010) (605)
- Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. (2006) (576)
- Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
- Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians (2006) (559)
- Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity (2012) (555)
- Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia (2008) (548)
- An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017) (547)
- Pervasive Sharing of Genetic Effects in Autoimmune Disease (2011) (537)
- The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
- Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma (2011) (526)
- Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis (2009) (520)
- Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci (2011) (518)
- Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (516)
- Rare and low-frequency coding variants alter human adult height (2016) (511)
- Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration (2010) (508)
- The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2012) (506)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration (2007) (453)
- PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data (2005) (442)
- Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease (2016) (434)
- Genome-wide association study of PR interval (2010) (432)
- Exome-wide association study of plasma lipids in >300,000 individuals (2017) (428)
- Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
- Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction (2014) (426)
- A first-generation linkage disequilibrium map of human chromosome 22 (2002) (424)
- Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
- Family-based association tests for genomewide association scans. (2007) (421)
- Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease (2010) (417)
- GRR: graphical representation of relationship errors (2001) (416)
- Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. (2012) (414)
- FTO genotype is associated with phenotypic variability of body mass index (2012) (407)
- Common variants at ten loci modulate the QT interval duration in the QTSCD Study (2009) (401)
- Common variants in the GDF5-UQCC region are associated with variation in human height (2008) (400)
- Biobank-driven genomic discovery yields new insight into atrial fibrillation biology (2018) (398)
- Age-related macular degeneration: genetics and biology coming together. (2014) (398)
- Gene polymorphism in Netherton and common atopic disease (2001) (397)
- Identification of fifteen new psoriasis susceptibility loci highlights the role of innate immunity (2012) (397)
- Minimac2: Faster Genotype Imputation (2015) (390)
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
- Genetics of Blood Lipids Among ~300,000 Multi-Ethnic Participants of the Million Veteran Program (2018) (387)
- Genome-Wide Association Study of Plasma Polyunsaturated Fatty Acids in the InCHIANTI Study (2009) (382)
- Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci (2001) (374)
- Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. (2005) (365)
- Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits (2013) (365)
- CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration (2006) (360)
- Using haplotype blocks to map human complex trait loci. (2003) (360)
- Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology (2017) (357)
- Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
- Extent and distribution of linkage disequilibrium in three genomic regions. (2001) (348)
- Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2 (2010) (343)
- Positional cloning of a novel gene influencing asthma from Chromosome 2q14 (2003) (342)
- A comparison of phasing algorithms for trios and unrelated individuals. (2006) (337)
- Human polymorphism at microRNAs and microRNA target sites. (2013) (330)
- Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma (2003) (325)
- Unified representation of genetic variants (2015) (318)
- Genome-wide association analysis identifies three psoriasis susceptibility loci (2010) (314)
- Pedigree tests of transmission disequilibrium (2000) (313)
- New models of collaboration in genome-wide association studies: the Genetic Association Information Network (2007) (313)
- Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis (2017) (308)
- Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair (2015) (308)
- Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study (2017) (302)
- Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. (2012) (301)
- Molecular dissection of psoriasis: integrating genetics and biology. (2010) (299)
- Transcriptome analysis of psoriasis in a large case-control sample: RNA-seq provides insights into disease mechanisms (2014) (297)
- Genetic Variants Regulating Immune Cell Levels in Health and Disease (2013) (296)
- Powerful regression-based quantitative-trait linkage analysis of general pedigrees. (2002) (295)
- Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. (2009) (294)
- Low-coverage sequencing: implications for design of complex trait association studies. (2011) (293)
- The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts (2007) (291)
- Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots (2003) (289)
- Inactivating mutations in NPC1L1 and protection from coronary heart disease. (2014) (289)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (288)
- RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data (2016) (287)
- Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. (2015) (281)
- Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion (2012) (279)
- Discovery of common and rare genetic risk variants for colorectal cancer (2018) (279)
- Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. (2005) (275)
- Common Missense Variant in the Glucokinase Regulatory Protein Gene Is Associated With Increased Plasma Triglyceride and C-Reactive Protein but Lower Fasting Glucose Concentrations (2008) (272)
- Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (2009) (270)
- Meta-analysis of 32 genome-wide linkage studies of schizophrenia (2009) (269)
- Genetic loci influencing kidney function and chronic kidney disease (2010) (266)
- Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk (2014) (263)
- Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences (2016) (263)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- Overexpression of the Cytokine BAFF and Autoimmunity Risk (2017) (255)
- E2-2 protein and Fuchs's corneal dystrophy. (2010) (247)
- Meta-analysis of genome scans of age-related macular degeneration. (2005) (245)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (244)
- Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. (2015) (240)
- Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels (2009) (240)
- Computationally efficient whole-genome regression for quantitative and binary traits (2020) (226)
- Population genetic differentiation of height and body mass index across Europe (2015) (224)
- Genotype-imputation accuracy across worldwide human populations. (2009) (224)
- Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants (2016) (219)
- Assessment of the psoriatic transcriptome in a large sample: additional regulated genes and comparisons with in vitro models. (2010) (219)
- Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque (2011) (214)
- Genetic variation in the 22q11 locus and susceptibility to schizophrenia (2002) (208)
- An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data (2015) (199)
- Genetic evidence of assortative mating in humans (2017) (199)
- Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
- A genome-wide association study on African-ancestry populations for asthma. (2010) (196)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
- Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes (2014) (190)
- Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin (2015) (189)
- Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals. (2010) (187)
- Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits (2017) (186)
- Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
- Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. (2005) (185)
- Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis (2010) (184)
- Inherited Causes of Clonal Hematopoiesis in 97,691 TOPMed Whole Genomes (2020) (184)
- Meta-Analysis of Gene Level Tests for Rare Variant Association (2013) (183)
- Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. (2007) (181)
- Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability (2011) (179)
- Blood pressure loci identified with a gene-centric array. (2011) (177)
- Global gene expression analysis reveals evidence for decreased lipid biosynthesis and increased innate immunity in uninvolved psoriatic skin. (2009) (173)
- Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration (2013) (171)
- Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. (2008) (170)
- Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers (2015) (168)
- Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci (2015) (167)
- Exome sequencing and analysis of 454,787 UK Biobank participants (2021) (166)
- Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels. (2016) (164)
- Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium (2015) (164)
- Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease (2014) (163)
- Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank (2020) (162)
- A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines (2013) (158)
- Multiple Loci within the Major Histocompatibility Complex Confer Risk of Psoriasis (2009) (158)
- Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases (2015) (156)
- Exome sequencing and complex disease: practical aspects of rare variant association studies (2012) (155)
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
- Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (153)
- The Trans-Ancestral Genomic Architecture of Glycemic Traits (2020) (151)
- A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation (2012) (150)
- Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits (2017) (149)
- A genome-wide association analysis of serum iron concentrations. (2010) (149)
- Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration (2019) (147)
- Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans (2009) (147)
- Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction (2014) (147)
- The impact of genotyping error on family-based analysis of quantitative traits (2001) (144)
- Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny (2013) (144)
- Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects (2018) (143)
- In silico method for inferring genotypes in pedigrees (2006) (141)
- Genome-Wide Association Scan of Trait Depression (2010) (139)
- The Molecular Genetic Architecture of Self-Employment (2013) (137)
- Optimal designs for two‐stage genome‐wide association studies (2007) (136)
- Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. (2008) (135)
- Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease (2017) (135)
- GENOME: a rapid coalescent-based whole genome simulator (2007) (133)
- Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability (2010) (132)
- Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. (2009) (132)
- Amelioration of Sardinian beta0 thalassemia by genetic modifiers. (2009) (132)
- Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies (2011) (130)
- The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
- Genetic Risk Prediction — Are We There Yet? (2009) (129)
- Ancestry estimation and control of population stratification for sequence-based association studies (2014) (128)
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis (2020) (127)
- Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank (2019) (126)
- Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. (2005) (126)
- Exome Aggregation Consortium (2016) (125)
- Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2017) (124)
- Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships. (2004) (124)
- Prevalence of Preoperative Opioid Use and Characteristics Associated With Opioid Use Among Patients Presenting for Surgery (2018) (121)
- Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
- Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. (2018) (120)
- Whole-genome sequencing reveals host factors underlying critical COVID-19 (2022) (120)
- Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. (2013) (120)
- Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
- Genome-wide meta-analysis of Psoriatic Arthritis Identifies Susceptibility Locus at REL (2011) (120)
- Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease (2004) (120)
- Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype imputation. (2015) (117)
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (115)
- Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes (2008) (114)
- Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools (2015) (112)
- Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. (2006) (109)
- Genotype Imputation from Large Reference Panels. (2018) (108)
- A comparison of approaches to account for uncertainty in analysis of imputed genotypes (2011) (107)
- Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation (2018) (106)
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
- RAREMETAL: fast and powerful meta-analysis for rare variants (2014) (103)
- Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants contributing to lipid levels and coronary artery disease (2017) (103)
- Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial (2019) (103)
- Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts (2019) (101)
- Sequence features in regions of weak and strong linkage disequilibrium. (2005) (99)
- Genome-wide association study and meta-analysis of intraocular pressure (2013) (99)
- Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
- 52 Genetic Loci Influencing Myocardial Mass. (2016) (98)
- COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan (2009) (98)
- Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium (2020) (96)
- Height-reducing variants and selection for short stature in Sardinia (2015) (94)
- Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. (2011) (93)
- Genome-wide scan reveals association of psoriasis with IL-23 and NFB pathways (2016) (93)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
- Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (2009) (93)
- Common Genetic Variation in the 3′-BCL11B Gene Desert Is Associated With Carotid-Femoral Pulse Wave Velocity and Excess Cardiovascular Disease Risk: The AortaGen Consortium (2012) (91)
- Exploring and visualizing large-scale genetic associations by using PheWeb (2020) (91)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (91)
- Whole-genome sequence-based analysis of thyroid function (2015) (89)
- Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. (2004) (88)
- Eight blood pressure loci identified by genome-wide association study of 34,433 people of European ancestry (2009) (88)
- Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe (2014) (88)
- Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation (2020) (88)
- Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility (2020) (87)
- Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs (2014) (87)
- Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (2013) (86)
- Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity (2021) (85)
- Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. (2004) (85)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
- No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38. (2014) (84)
- Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations (2021) (83)
- A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families (2012) (82)
- Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve (2017) (82)
- Toll-like receptor polymorphisms and age-related macular degeneration. (2008) (82)
- Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. (2018) (82)
- Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. (2012) (81)
- Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. (2008) (81)
- Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. (2016) (81)
- Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. (2012) (79)
- Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
- A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis. (2013) (78)
- Nogo Receptor 1 (RTN4R) as a Candidate Gene for Schizophrenia: Analysis Using Human and Mouse Genetic Approaches (2007) (78)
- Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. (2016) (77)
- Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample (2001) (76)
- Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry (2017) (75)
- Genome-wide analysis yields new loci associating with aortic valve stenosis (2017) (74)
- Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients (2018) (73)
- Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci (2019) (72)
- A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. (2017) (72)
- Single nucleotide polymorphism and linkage disequilibrium within the TCR α/δ locus (2000) (71)
- An alternative to the search for single polymorphisms: toward molecular personality scales for the five-factor model. (2010) (71)
- Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees (2014) (70)
- Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium (2020) (69)
- Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
- LocusZoom.js: interactive and embeddable visualization of genetic association study results (2021) (68)
- Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2021) (68)
- PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
- A saturated map of common genetic variants associated with human height (2022) (65)
- Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information. (2004) (65)
- Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease (2017) (64)
- An efficient comprehensive search algorithm for tagSNP selection using linkage disequilibrium criteria (2006) (62)
- Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry (2016) (62)
- GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS (2015) (61)
- Prosaposin is a regulator of progranulin levels and oligomerization (2016) (61)
- Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data (2022) (60)
- A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape (2016) (59)
- Linkage Disequilibrium: Ancient History Drives the New Genetics (2005) (59)
- Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals (2021) (59)
- Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
- Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past (2017) (58)
- Genome-wide analysis of disease progression in age-related macular degeneration (2018) (58)
- Genomic history of the Sardinian population (2018) (57)
- Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (55)
- Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. (2014) (55)
- Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina (2010) (55)
- Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent (2010) (53)
- Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits (2017) (53)
- Genetic testing in persons with age-related macular degeneration and the use of the AREDS supplements: to test or not to test? (2015) (53)
- A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (2011) (52)
- Genotype calling and haplotyping in parent-offspring trios (2013) (52)
- Inflammation in the pathogenesis of age-related macular degeneration (2008) (52)
- De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population (2020) (51)
- Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19 (2016) (51)
- The influence of genomic context on mutation patterns in the human genome inferred from rare variants (2013) (50)
- GAS Power Calculator: web-based power calculator for genetic association studies (2017) (49)
- Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy (2020) (47)
- Rare Nonsynonymous Exonic Variants in Addiction and Behavioral Disinhibition (2014) (47)
- Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores (2017) (46)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
- Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use (2019) (45)
- Erratum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (Nature (2013) 493 (216-220) DOI: 10.1038/nature116) (2013) (44)
- Variants of the serotonin transporter gene and NEO‐PI‐R Neuroticism: No association in the BLSA and SardiNIA samples (2009) (44)
- A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies. (2017) (44)
- Strong Association of the Y 402 H Variant in Complement Factor H at 1 q 32 with Susceptibility to Age-Related Macular Degeneration (2005) (44)
- Some Properties of a Variance Components Model for Fine-Mapping Quantitative Trait Loci (2000) (44)
- Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database (2004) (43)
- Association Analysis in a Variance Components Framework (2001) (43)
- A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
- Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders (2021) (41)
- Imputation of coding variants in African Americans: better performance using data from the exome sequencing project (2013) (41)
- Genotype‐based matching to correct for population stratification in large‐scale case‐control genetic association studies (2009) (41)
- Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes (2021) (41)
- Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease (2022) (40)
- Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease (2022) (40)
- Psoriasis bench to bedside: genetics meets immunology. (2009) (40)
- Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (39)
- Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis (2018) (39)
- Clonal hematopoiesis associated with epigenetic aging and clinical outcomes (2021) (38)
- Genetic association study of age‐related macular degeneration in the Spanish population (2011) (37)
- Quantitative Trait Linkage Analysis Using Gaussian Copulas (2006) (37)
- Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
- A fast and accurate algorithm to test for binary phenotypes and its application to PheWAS (2017) (37)
- Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data. (2015) (37)
- Genetic variants in CETP increase risk of intracerebral hemorrhage (2016) (36)
- Characterization of ADME gene variation in 21 populations by exome sequencing (2016) (35)
- Estimating the power of variance component linkage analysis in large pedigrees (2006) (35)
- Population and individual-specific regulatory variation in Sardinia (2017) (34)
- Prevalence of CKD and its relationship to eGFR-related genetic loci and clinical risk factors in the SardiNIA study cohort. (2014) (34)
- Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis (2007) (33)
- Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2019) (33)
- Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association. (2005) (32)
- Fine Mapping on Chromosome 13q32–34 and Brain Expression Analysis Implicates MYO16 in Schizophrenia (2014) (32)
- Fine mapping of eight psoriasis susceptibility loci (2014) (32)
- Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome (2017) (31)
- Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease (2018) (31)
- GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence (2017) (31)
- Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling (2017) (31)
- Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank (2022) (31)
- Genome-wide association study identifies a psoriasis susceptibility locus at TRAF 3 IP 2 (2010) (31)
- Positive association to IgE levels and a physical map of the 13q14 atopy locus (2002) (30)
- Ancestry-agnostic estimation of DNA sample contamination from sequence reads (2018) (30)
- Replicating genotype – phenotype associations What constitutes replication of a genotype – phenotype association , and how best can it be achieved ? (2007) (29)
- A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration (2020) (28)
- Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer (2019) (28)
- In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. (2014) (27)
- Sequenced in 14 , 002 People An Abundance of Rare Functional Variants in 202 Drug Target Genes (2013) (27)
- A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
- Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb (2018) (27)
- Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees (2017) (27)
- An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs (2021) (26)
- Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
- Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects. (2020) (24)
- Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies (2018) (24)
- LASER server: ancestry tracing with genotypes or sequence reads (2017) (24)
- The Effect of Genotype and Pedigree Error on Linkage Analysis: Analysis of Three Asthma Genome Scans (2001) (24)
- Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms (2016) (23)
- Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions (2012) (23)
- Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes (2019) (23)
- A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics. (2018) (23)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
- Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease (2020) (22)
- Accurate local-ancestry inference in exome-sequenced admixed individuals via off-target sequence reads. (2013) (22)
- Using sex‐averaged genetic maps in multipoint linkage analysis when identity‐by‐descent status is incompletely known (2006) (22)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
- Psychophysiological endophenotypes to characterize mechanisms of known schizophrenia genetic loci (2016) (22)
- The benefits of using genetic information to design prevention trials. (2013) (21)
- Genetic architectures of proximal and distal colorectal cancer are partly distinct (2020) (21)
- Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes. (2014) (21)
- Age-of-onset information helps identify 76 genetic variants associated with allergic disease (2020) (21)
- Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2020) (21)
- Optimal sequencing strategies for identifying disease-associated singletons (2017) (20)
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population (2017) (20)
- Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative (2017) (20)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
- QPLOT: A Quality Assessment Tool for Next Generation Sequencing Data (2013) (20)
- Methods for Association Analysis and Meta‐Analysis of Rare Variants in Families (2015) (20)
- Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
- Toll-like receptor 4 variant D 299 G is associated with susceptibility to age-related macular degeneration (2005) (19)
- Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants (2020) (19)
- The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients (2021) (19)
- Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels (2017) (18)
- Genome sequencing unveils a regulatory landscape of platelet reactivity (2019) (18)
- Clonal hematopoiesis in sickle cell disease (2021) (18)
- Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential (2022) (17)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
- Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes (2018) (17)
- A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia (2020) (17)
- Is disrupted sleep a risk factor for Alzheimer’s disease? Evidence from a two-sample Mendelian randomization analysis (2019) (17)
- AbCD: arbitrary coverage design for sequencing-based genetic studies (2013) (16)
- Association of mitochondrial DNA copy number with cardiometabolic diseases (2020) (16)
- Family-based exome sequencing identifies rare coding variants in age-related macular degeneration (2020) (16)
- Genome-wide association study of susceptibility loci for breast cancer in Sardinian population (2015) (16)
- Reversal of Aging‐Induced Increases in Aortic Stiffness by Targeting Cytoskeletal Protein‐Protein Interfaces (2018) (16)
- Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
- Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (2021) (16)
- Model-based assessment of replicability for genome-wide association meta-analysis (2021) (15)
- Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed (2022) (15)
- Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
- The HUNT study: A population-based cohort for genetic research (2021) (15)
- eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues (2015) (15)
- Corrigendum: Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies (2006) (14)
- No large-effect low-frequency coding variation found for myocardial infarction. (2014) (14)
- Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
- Germline Mutations in CIDEB and Protection against Liver Disease. (2022) (14)
- fastMitoCalc: an ultra‐fast program to estimate mitochondrial DNA copy number from whole‐genome sequences (2017) (14)
- Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals (2020) (14)
- Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation (2018) (13)
- MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk (2020) (13)
- Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes (2021) (13)
- Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools (2015) (13)
- Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution. (2016) (12)
- Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program (2020) (12)
- emeraLD: rapid linkage disequilibrium estimation with massive datasets (2018) (12)
- Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. (2021) (11)
- Genetic and population analysis minimac2: faster genotype imputation (2015) (11)
- GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms (2020) (11)
- High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease (2022) (11)
- Genes for Good: Engaging the Public in Genetics Research via Social Media. (2019) (11)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
- GWAS GUI: graphical browser for the results of whole-genome association studies with high-dimensional phenotypes (2009) (10)
- SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits (2012) (10)
- Graphical algorithm for integration of genetic and biological data: proof of principle using psoriasis as a model (2015) (10)
- Common and rare variant associations with clonal haematopoiesis phenotypes (2022) (10)
- Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data (2017) (10)
- Population history of the Sardinian people inferred from whole-genome sequencing (2016) (10)
- Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (9)
- Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans. (2020) (9)
- Association analysis and meta-analysis of multiallelic variants for large-scale sequence data (2020) (9)
- Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation (2019) (9)
- A Single SNP Surrogate for Genotyping HLA-C*06:02 in Diverse Populations (2014) (9)
- An evaluation of the replicate pool method: quick estimation of genome‐wide linkage peak p‐values (2006) (8)
- Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants (2014) (8)
- Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth. (2020) (8)
- No bias in linkage analysis. (2004) (8)
- Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2013) (8)
- Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis (2019) (8)
- Enhanced genetic maps from family-based disease studies: population-specific comparisons (2011) (8)
- Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration (2019) (8)
- Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration. (2017) (8)
- Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
- Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide (2021) (7)
- Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices (2021) (7)
- PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity (2020) (7)
- FIVEx: an interactive eQTL browser across public datasets (2021) (7)
- Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project (2016) (7)
- Validating Online Measures of Cognitive Ability in Genes for Good, a Genetic Study of Health and Behavior (2020) (7)
- An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels (2018) (7)
- Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program (2019) (7)
- Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction (2020) (6)
- LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks (2020) (6)
- Improved score statistics for meta‐analysis in single‐variant and gene‐level association studies (2018) (6)
- Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test (2019) (6)
- Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology (2022) (6)
- Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. (2021) (6)
- A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
- Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico (2020) (6)
- fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences. (2017) (6)
- Discovery of common and rare genetic risk variants for colorectal cancer (2018) (6)
- Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with asthma. (2019) (6)
- Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) program (2020) (6)
- A linkage disequilibrium map of chromosome 22 (2002) (6)
- Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
- Regression-Based Sib Pair Linkage Analysis for Binary Traits (2003) (6)
- Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed (2019) (5)
- Clonal hematopoiesis is driven by aberrant activation of TCL1A (2021) (5)
- Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study (2022) (5)
- Comparing variant calling algorithms for target-exon sequencing in a large sample (2015) (5)
- Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels. (2022) (5)
- Relative impact of indels versus SNPs on complex disease (2018) (5)
- Meta‐MultiSKAT: Multiple phenotype meta‐analysis for region‐based association test (2019) (5)
- Oxford Genome Screen for Asthma‐Associated Traits (2001) (5)
- Exome array analysis identifies novel loci and low-frequency variants for insulin processing and secretion (2013) (5)
- Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT (2021) (5)
- GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome (2021) (5)
- Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations (DOI: 10.1016/j.ajhg.2009.02.011) (2009) (4)
- Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals (2021) (4)
- Meta-analysis of genome-wide association results in > 10.000 individuals for the big five personality traits (2009) (4)
- Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease (2019) (4)
- Predicting physiological aging rates from a range of quantitative traits using machine learning (2021) (4)
- Estimation of DNA contamination and its sources in genotyped samples (2019) (4)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
- False discovery rates for genome-wide association tests in biobanks with thousands of phenotypes (2021) (4)
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies (2022) (4)
- Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative. (2021) (4)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (4)
- Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
- Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes (2022) (4)
- Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program (2021) (4)
- Supplementary Material 7 (2014) (3)
- Supplementary Material 3 (2015) (3)
- Imputation aware tag SNP selection to improve power for multi-ethnic association studies (2017) (3)
- Data Related to Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2019) (3)
- Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study. (2021) (3)
- Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (3)
- Variance Components Linkage Analysis with Repeated Measurements (2008) (3)
- Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility (2020) (3)
- Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy (2020) (3)
- Genome-wide association analysis of psoriatic arthritis (2014) (3)
- Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry (2020) (3)
- Genome Wide Association Study (GWAS) of Age-Related Macular Degeneration (AMD) (2009) (3)
- Improved Score Statistics for Meta-analysis in Single-variant and Gene-level Association Studies (2017) (3)
- Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries (2020) (3)
- Association Analysis and Meta-Analysis of Multi-allelic Variants for Large Scale Sequence Data (2017) (3)
- Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration (2019) (3)
- Alternative to the Search for Single Polymorphisms (2010) (3)
- Supplementary Material 6 (2014) (3)
- Supplementary Material 5 (2014) (3)
- FIVEx: an interactive multi-tissue eQTL browser (2021) (3)
- Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
- A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia (2020) (2)
- Genome-wide association scans identify novel loci that influence lipid levels and risk of coronary artery disease (2007) (2)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2018) (2)
- 39 GENETICS OF THE RESEARCH DOMAIN CRITERIA (RDoC): GENOME-WIDE ASSOCIATION STUDY OF DELAY DISCOUNTING (2017) (2)
- Brief report Amelioration of Sardinian (cid:1) 0 thalassemia by genetic modifiers (2009) (2)
- Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008 (2009) (2)
- Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin (2015) (2)
- GWAS of stool frequency reveals genes, pathways, and cell types relevant to human gastrointestinal motility and irritable bowel syndrome (2020) (2)
- Mendelian Randomization Study of ACLY and Cardiovascular Disease. (2020) (2)
- Population and individual effects of non-coding variants inform genetic risk factors (2016) (2)
- Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension (2022) (2)
- Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data (2020) (2)
- Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (2018) (2)
- Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry (2017) (2)
- Independent test assessment using the extreme value distribution theory (2016) (2)
- Proper Conditional Analysis in the Presence of Missing Data Identified Novel Independently Associated Low Frequency Variants in Nicotine Dependence Genes (2017) (2)
- European Y-Chromosome Phylogeny Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs (2013) (2)
- Exploring Various Polygenic Risk Scores for Basal Cell Carcinoma, Cutaneous Squamous Cell Carcinoma and Melanoma in the Phenomes of the Michigan Genomics Initiative and the UK Biobank (2018) (2)
- Genes for Good: Engaging the Public in Genetics Research via Social Media. (2019) (2)
- Complex genetic signatures in immune cells underlie autoimmunity and inform therapy (2020) (2)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
- Author reply: To PMID 24974817. (2015) (1)
- Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer (2019) (1)
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma (2022) (1)
- Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior (2017) (1)
- Supplementary Material 9 (2013) (1)
- UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab (2017) (1)
- Supplementary Material 15 (2013) (1)
- Algorithmic improvements in gene mapping (2005) (1)
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma (2022) (1)
- Genomewide search for genetic modifiers in patients with Leber congenital amaurosis using whole exome sequencing (2014) (1)
- An overview of regression methods of linkage analysis in selected samples. (2001) (1)
- Genome-wide association study of liver fat, iron, and extracellular fluid fraction in the UK Biobank (2021) (1)
- Edinburgh Research Explorer Meta-analysis of genome-wide association studies for extraversion (2018) (1)
- Abstract 5230: Large scale whole genome sequencing with imputation into GWAS improves our understanding of the genetic architecture of colorectal cancer (2016) (1)
- Publisher Correction: Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry (2018) (1)
- Associations of CFHR 1 – CFHR 3 deletion and a CFH snp to age-related macular degeneration (2010) (1)
- Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative (2021) (1)
- Sparse allele vectors and the savvy software suite (2021) (1)
- Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
- Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program (2021) (1)
- Genetic Loci In fl uencing Myocardial Mass (2016) (1)
- Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program (2021) (1)
- Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution (2019) (1)
- Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits (2017) (1)
- Supplementary Material 4 (2015) (1)
- Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer (2019) (1)
- enome-Wide Association Scan of Trait Depression (2010) (1)
- De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population (2019) (1)
- Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
- Erratum: Whole-genome sequence-based analysis of thyroid function (2015) (1)
- Genome-wide analysis yields new loci associating with aortic valve stenosis (2018) (1)
- Discovery and Refinement Supplementary (2015) (1)
- Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program (2022) (1)
- The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. (2023) (0)
- Rare Variant Pathway Analysis in the Age-Related Eye Disease Study 2 (2017) (0)
- GWAS meta-analysis (N=279,930) identifies new genes and functional links to general cognitive ability (2018) (0)
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (0)
- Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies (2018) (0)
- Abstract 14052: Feasibility of Whole Genome Sequencing for Atrial Fibrillation (2016) (0)
- A fast linkage method for population GWAS cohorts with related individuals (2023) (0)
- Erratum: Genes for Good: Engaging the Public in Genetics Research via Social Media (The American Journal of Human Genetics (2019) 105(1) (65–77), (S0002929719301922), (10.1016/j.ajhg.2019.05.006)) (2019) (0)
- The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. (2023) (0)
- Comparing variant calling algorithms for target-exon sequencing in a large sample (2015) (0)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
- Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium (2021) (0)
- Acknowledgement to the Reviewers (2005) (0)
- 743 HUNTing for genes that affect inflammatory skin disease in 4,071 cases and 40,430 controls (2018) (0)
- Genetic Modifiers of Homozygous Beta Zero Thalassemia. (2008) (0)
- Pain precision medicine : A polygenic risk score correlates with headache prevalence and severity (2018) (0)
- Genetics of Latin American Diversity (GLAD) Project: insights into population genetics and association studies in recently admixed groups in the Americas (2023) (0)
- Coding mutations were rare in the identified loci. Together, our findings emphasize the importance of regulatory variation in host defense genes in the pathogenesis of psoriasis. (2016) (0)
- emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets (2018) (0)
- Rare and common variants in extracellular matrix gene fibrillin 2 (FBN2) are associated with inherited and age-related macular degeneration, respectively (2013) (0)
- Erratum: Shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits (European Journal of Human Genetics (2013) 21 (673-679) DOI: 10.1038/ejhg.2012.215) (2014) (0)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (0)
- Subject Index Vol. 67, 2009 (2009) (0)
- Publisher Correction: Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry (2018) (0)
- Retinal Pigment Epithelial Signature Gene Function and Retinal Disease (2010) (0)
- Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients (2018) (0)
- Genomic history of the Sardinian population (2018) (0)
- Reply: To PMID 25456150. (2015) (0)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (0)
- Reference Transcriptome Landscape of Adult Human Retina (2017) (0)
- A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration (2020) (0)
- Integrative functional genomics of age-related macular degeneration (2018) (0)
- Whole Genome Sequencing Scan of 2,099 Samples in Age-related Macular Degeneration Study (2014) (0)
- Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis (2023) (0)
- A powerful regression-based method of quantitative-trait linkage analysis for general pedigrees (2002) (0)
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
- Further Explorations in the Genetics of Age-Related Maculopathy (ARM) (2009) (0)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (0)
- Biobank-driven genomic discovery yields new insight into atrial fibrillation biology (2018) (0)
- Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis (2019) (0)
- Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer (2019) (0)
- Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry. (2021) (0)
- Bricker , and Humans Drosophila Yeast , A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in (2012) (0)
- Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts (2020) (0)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
- Regression models for association studies of quantitative trait loci in humans (2000) (0)
- Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium (2015) (0)
- The genetic determinants of recurrent somatic mutations in 43,693 blood genomes (2023) (0)
- Reply: To PMID 25456150. (2015) (0)
- Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration (2019) (0)
- Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2021) (0)
- Genetic and Functional Characterization of ANGPTL7 as a Therapeutic Target for Glaucoma (2021) (0)
- Edinburgh Research Explorer Evidence of association of APOE with age-related macular degeneration (2018) (0)
- Title 1 Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene 2 expression in the airway epithelium (2020) (0)
- Targeted Sequencing, Augmented with Public Resources, Identifies a Rare C3 Allele Associated with Large Risk of Age-related Macular Degeneration (2013) (0)
- Linkage Analysis of Qualitative Traits (2009) (0)
- Genome-Wide Linkage Scan and Follow-Up Association Analysis for Schizophrenia in an Afrikaner Founder Population (2006) (0)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)
- 742 Identification of psoriasis-associated genes using genetically predicted transcriptomes (2018) (0)
- Generation Scotland (2016). Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium. (2), (2015) (0)
- Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects (2018) (0)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2020) (0)
- Publisher Correction: Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry (2019) (0)
- A genome-wide search for linkage to atopic dermatitis and underlying quantitative traits (2000) (0)
- 2014 Curt Stern Award: Adventures in Human Genetics (2015) (0)
- Author Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology (2022) (0)
- BIOINFORMATICS The Sequence Alignment/Map format and SAMtools (0)
- Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program (2018) (0)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
- Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort (2013) (0)
- Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes (2023) (0)
- Genotyping and imputation (2018) (0)
- Supplementary Material (nature09270-s1) (2012) (0)
- Transcriptome analysis of AMD retina reveals convergent molecular pathology (2017) (0)
- Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits (2018) (0)
- Genome-wide association study of susceptibility loci for breast cancer in Sardinian population (2015) (0)
- Exploring and visualizing large-scale genetic associations by using PheWeb (2020) (0)
- Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
- Abstract 1300: Genetic predictors of gene expression associated with risk of colorectal cancer (2017) (0)
- disequilibrium Sequence features in regions of weak and strong linkage Material Supplemental (2005) (0)
- Systematic Reviews and Meta- and Pooled Analyses Variations in Apolipoprotein E FrequencyWith Age in a Pooled Analysis of a Large Group of Older People (2011) (0)
- Acknowledgement to the Reviewers (2003) (0)
- Identification of Susceptibility Genes for Age-related Macular Degeneration (2002) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (2021) (0)
- Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence (2018) (0)
- Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (0)
- Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581] (2021) (0)
- Abstract 1304: The contribution of rare and low-frequency variants to colorectal cancer heritability (2017) (0)
- The All of Us Research Program Researcher Portal: Innovative access to Unprecendented Data (2017) (0)
- Publisher Correction: Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry (2019) (0)
- A first generation haplotype map of chromosome 19 (2002) (0)
- Chipping Away At The Genetics of Age Related Macular Degeneration (2013) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- Abstract 4730: Integrating pathway analysis and genetics of gene expression for genome-wide association study on basal cell carcinoma (2011) (0)
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis (2020) (0)
- Variant-specific inflation factors for assessing population stratification at the phenotypic variance level (2021) (0)
- Combined Genotyping And Genome-wide Expression Analysis Of Peripheral Blood To Identify Biomarkers For Age-related Macular Degeneration (2011) (0)
- A scalable Bayesian method for integrating functional information in genome-wide association studies (2017) (0)
- Joint testing of rare variant burden scores using non-negative least squares (2023) (0)
- SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits (2013) (0)
- Abstract 4489: Using functional data from Roadmap Epigenomics to inform analysis of rare variants linked to gene expression in a large colorectal cancer study (2016) (0)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
- Genetics Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG 2 as a Candidate Gene for Age-Related Macular Degeneration (2019) (0)
- Abstract 154: Genetic Variants in CETP That Increase HDL Levels also Increase Risk of Intracerebral Hemorrhage (2017) (0)
- Whole-genome sequence-based analysis of thyroid function (vol 6, 5681, 2015) (2015) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- Sequencing of Human Exomes Evolution and Functional Impact of Rare Coding Variation from Deep (2013) (0)
- Whole genome sequence analysis of pulmonary function and COPD in 19,996 multiethnic participants. (2020) (0)
- Clonal haematopoiesis and risk of chronic liver disease (2023) (0)
- Sequence analysis Unified representation of genetic variants (2015) (0)
- Acknowledgement to the Reviewers (2004) (0)
- Novel KITLG regulatory variants are associated with lung function in African American children with asthma (2020) (0)
- Contents Vol. 67, 2009 (2009) (0)
- Genetic disease & gene regulation. (2015) (0)
- Whole genome sequencing reveals host factors underlying critical Covid-19 Accelerated Article Preview (2022) (0)
- Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2018) (0)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
- Response to Graffelman: Tests of Hardy-Weinberg Equilibrium (2010) (0)
- A Sardinian founder mutation in GP1BB that impacts thrombocytopenia. (2020) (0)
- Reply: To PMID 25456150. (2015) (0)
- Genome-wide association study and meta-analysis of intraocular pressure (2013) (0)
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