Jonathan Marchini
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Professor of Statistical Genomics
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Mathematics Biology
Jonathan Marchini's Degrees
- PhD Statistical Genetics University of Oxford
- Masters Statistics University of Oxford
- Bachelors Mathematics University of Oxford
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Why Is Jonathan Marchini Influential?
(Suggest an Edit or Addition)According to Wikipedia, Jonathan Laurence Marchini is a Bayesian statistician and professor of statistical genomics in the Department of Statistics at the University of Oxford, a tutorial fellow in statistics at Somerville College, Oxford and a co-founder and director of Gensci Ltd. He co-leads the Haplotype Reference Consortium.
Jonathan Marchini'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
- A global reference for human genetic variation (2015) (11857)
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (2007) (9208)
- A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
- A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies (2009) (3816)
- The UK Biobank resource with deep phenotyping and genomic data (2018) (3653)
- A new multipoint method for genome-wide association studies by imputation of genotypes (2007) (2639)
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease (2008) (2621)
- Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes (2007) (2245)
- Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (2008) (1882)
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression (2018) (1816)
- Fast and accurate genotype imputation in genome-wide association studies through pre-phasing (2012) (1632)
- A linear complexity phasing method for thousands of genomes (2011) (1620)
- Genotype imputation for genome-wide association studies (2010) (1545)
- Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants (2007) (1421)
- Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008) (1307)
- Improved whole-chromosome phasing for disease and population genetic studies (2013) (1201)
- Identification of loci associated with schizophrenia by genome-wide association and follow-up (2008) (1069)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
- Genome-wide strategies for detecting multiple loci that influence complex diseases (2005) (962)
- Genotype Imputation with Thousands of Genomes (2011) (954)
- The UK10K project identifies rare variants in health and disease (2015) (926)
- The effects of human population structure on large genetic association studies (2004) (886)
- The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease (2016) (885)
- A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC (2006) (764)
- Sparse whole genome sequencing identifies two loci for major depressive disorder (2015) (717)
- Genome-wide genetic data on ~500,000 UK Biobank participants (2017) (630)
- Meta-analysis and imputation refines the association of 15q25 with smoking quantity (2010) (605)
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (600)
- Designing Genome-Wide Association Studies: Sample Size, Power, Imputation, and the Choice of Genotyping Chip (2009) (594)
- A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness (2014) (482)
- Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (465)
- Genome-wide association studies of brain imaging phenotypes in UK Biobank (2018) (402)
- Genome-wide association and large scale follow-up identifies 16 new loci influencing lung function (2011) (401)
- Genome-wide and fine-resolution association analysis of malaria in West Africa (2009) (394)
- Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel (2014) (348)
- A comparison of phasing algorithms for trios and unrelated individuals. (2006) (337)
- Human polymorphism at microRNAs and microRNA target sites. (2013) (330)
- Haplotype estimation using sequencing reads. (2013) (329)
- Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank (2015) (326)
- Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
- Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2017) (294)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (288)
- HAPGEN2: simulation of multiple disease SNPs (2011) (287)
- The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers (2016) (267)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (244)
- Two-Stage Two-Locus Models in Genome-Wide Association (2006) (244)
- Accurate, scalable and integrative haplotype estimation (2019) (230)
- Computationally efficient whole-genome regression for quantitative and binary traits (2020) (226)
- Genome-wide detection and characterization of positive selection in human populations (2007) (217)
- Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer (2011) (204)
- The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes (2013) (201)
- Molecular Signatures of Major Depression (2015) (198)
- A robust statistical method for case-control association testing with copy number variation (2008) (189)
- Haplotype estimation for biobank scale datasets (2016) (178)
- Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function (2012) (167)
- Exome sequencing and analysis of 454,787 UK Biobank participants (2021) (166)
- Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits (2017) (149)
- Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function. (2011) (144)
- Tensor decomposition for multi-tissue gene expression experiments (2016) (139)
- Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016) (131)
- Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank (2019) (126)
- A new statistical approach to detecting significant activation in functional MRI (2000) (113)
- Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation (2015) (110)
- Handedness, language areas and neuropsychiatric diseases: insights from brain imaging and genetics (2019) (100)
- The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls (2018) (99)
- Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium (2017) (87)
- Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity (2021) (85)
- A multiple phenotype imputation method for genetic studies (2016) (84)
- Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. (2012) (81)
- Unified single-cell analysis of testis gene regulation and pathology in five mouse strains (2019) (77)
- Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2 (2009) (75)
- Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank (2019) (72)
- Comparing methods of analyzing fMRI statistical parametric maps (2004) (70)
- A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
- Cystatin C and Cardiovascular Disease (2016) (68)
- A New Statistical Approach to Detecting Significant Activation in Functional MRI (2000) (64)
- Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data (2019) (61)
- A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts (2020) (60)
- Intra-individual variation in resting metabolic rate during the menstrual cycle (2003) (59)
- Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals (2021) (59)
- An imputation platform to enhance integration of rice genetic resources (2018) (56)
- 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)
- Multiway Admixture Deconvolution Using Phased or Unphased Ancestral Panels (2013) (54)
- Genotype imputation using the Positional Burrows Wheeler Transform (2019) (53)
- The spatial correspondence and genetic influence of interhemispheric connectivity with white matter microstructure (2018) (50)
- Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold (2013) (49)
- BGEN: a binary file format for imputed genotype and haplotype data (2018) (48)
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depressive disorder (2017) (47)
- Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis (2012) (44)
- Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
- A new multipoint method for genome-wide association studies via imputation of genotypes : Supplementary Methods (2007) (43)
- Comparing algorithms for genotype imputation. (2008) (43)
- A common biological basis of obesity and nicotine addiction (2013) (41)
- Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities (2020) (41)
- Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease (2022) (40)
- Association of polygenic score for major depression with response to lithium in patients with bipolar disorder (2020) (37)
- 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project (2017) (36)
- On Bias in the Estimation of Autocorrelations for fMRI Voxel Time-Series Analysis (2003) (35)
- The genetic basis of human brain structure and function: 1,262 genome-wide associations found from 3,144 GWAS of multimodal brain imaging phenotypes from 9,707 UK Biobank participants (2017) (34)
- Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking (2013) (33)
- Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
- Multicohort analysis of the maternal age effect on recombination (2015) (28)
- The effect of genome-wide association scan quality control on imputation outcome for common variants (2011) (28)
- False discovery rate control in genome-wide association studies with population structure (2021) (24)
- A Bayesian Method for Detecting and Characterizing Allelic Heterogeneity and Boosting Signals in Genome-Wide Association Studies (2009) (22)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
- Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
- Discussion on the meeting on ‘Statistical modelling and analysis of genetic data’ (2002) (21)
- Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease (2020) (20)
- Modeling interactions with known risk loci—a Bayesian model averaging approach (2011) (20)
- Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression (2020) (20)
- Inferring Gene-by-Environment Interactions with a Bayesian Whole-Genome Regression Model (2020) (19)
- Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank (2019) (18)
- Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array (2011) (17)
- Phasing for medical sequencing using rare variants and large haplotype reference panels (2016) (15)
- Genetic association analysis of SARS-CoV-2 infection in 455,838 UK Biobank participants (2020) (15)
- Genome-wide association studies of brain structure and function in the UK Biobank (2017) (14)
- Unified single-cell analysis of testis gene regulation and pathology in 5 mouse strains (2018) (13)
- Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
- Haplotype Estimation and Genotype Imputation (2019) (12)
- UK Biobank Phasing and Imputation Documentation Version 1 . 2 13 November 2015 documentation author (2015) (12)
- A model-based approach to capture genetic variation for future association studies. (2006) (11)
- A catalog of associations between rare coding variants and COVID-19 outcomes (2020) (10)
- Network inference in matrix-variate Gaussian models with non-independent noise (2013) (10)
- Common and rare variant associations with clonal haematopoiesis phenotypes (2022) (10)
- Exome sequencing of 628,388 individuals identifies common and rare variant associations with clonal hematopoiesis phenotypes (2022) (9)
- Human Handedness: Genetics, Microtubules, Neuropsychiatric Diseases and Brain Language Areas (2018) (8)
- Introduction to the Special Issue: Genome-Wide Association Studies (2009) (8)
- Controlling the false discovery rate in GWAS with population structure (2020) (8)
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults (2021) (7)
- FDR control in GWAS with population structure (2020) (6)
- A non-linear regression method for estimation of gene–environment heritability (2020) (5)
- Reply to "Genomic Control to the extreme" (2004) (5)
- Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study (2022) (5)
- Joint Genotype Calling With Array and Sequence Data (2012) (5)
- Integrative haplotype estimation with sub-linear complexity (2018) (4)
- Gene-environment interactions using a Bayesian whole genome regression model (2019) (4)
- Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes (2022) (4)
- Explaining Missing Heritability Using Gaussian Process Regression (2016) (4)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (4)
- Leveraging Identity-by-Descent for Accurate Genotype Inference in Family Sequencing Data (2015) (4)
- Author response: Unified single-cell analysis of testis gene regulation and pathology in five mouse strains (2019) (3)
- Type 2 Diabetes and Triglyceride Levels Genome-Wide Association Analysis Identifies Loci (3)
- A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank (2020) (3)
- Lecture 5 : The Poisson Distribution Jonathan Marchini (2008) (3)
- Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
- Genomic partitioning and cross-population polygene scoring of major depressive disorder in N=11,651 Han Chinese women using low-pass sequencing data (2014) (2)
- Independent Component Analysis of Functional Magnetic Resonance Imaging Data Using Wavelet Dictionaries (2007) (2)
- Retraction Note: 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project (2017) (2)
- Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities (2019) (2)
- Universal continuous severity traits underlying hundreds of Parkinson\'s disease clinical features (2019) (2)
- Four-Dimensional Sparse Bayesian Tensor Decomposition for Gene Expression Data (2020) (2)
- The Plight of Muntaser Ibrahim (2019) (1)
- Lecture 4 : The Binomial Distribution (1)
- Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
- The Uk Bileve Study: The First Genetic Study In Uk Biobank Identifies Novel Regions Associated With Airway Obstruction And Smoking Behaviour (2015) (1)
- Molecular Signatures of M ajor Depression (2015) (1)
- Genome-wide association study of liver fat, iron, and extracellular fluid fraction in the UK Biobank (2021) (1)
- Assessing population structure and its effects on association studies in a genome wide SNP dataset. (2002) (1)
- Haplotype Inference for the Phase I HapMap (2007) (1)
- Correction: Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank (2020) (1)
- Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial (2019) (0)
- Non-linear randomized Haseman-Elston regression for estimation of gene-environment heritability (2020) (0)
- RETRACTED ARTICLE: 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project (2017) (0)
- Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder (2018) (0)
- The spatial correspondence and genetic influence of interhemispheric connectivity with white matter microstructure (2019) (0)
- Bayesian methods for multivariate phenotype analysis in genome-wide association studies (2013) (0)
- Imputing genotypes in genome-wide association studies (2008) (0)
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression (2018) (0)
- Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2018) (0)
- CONVERGE dataset: 12,000 whole-genome sequences representative of the Han Chinese population (2016) (0)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (0)
- Rice imputation files: reference panel and recombination map (2021) (0)
- Diabetes and Triglyceride Levels Genome-Wide Association Analysis Identifies Loci for Type 2 (2011) (0)
- Universal latent axes capturing Parkinson’s patient deep phenotypic variation reveals patients with a high genetic risk for Alzheimer’s disease are more likely to develop a more aggressive form of Parkinson’s (2019) (0)
- Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation (2022) (0)
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture ofmajor depressive disorder (2018) (0)
- Statistical methods for the analysis of genetic association studies (2008) (0)
- A model-based approach to capture genetic variation for future Material Supplemental (2006) (0)
- An imputation platform to enhance integration of rice genetic resources (2018) (0)
- Haplotype estimation for biobank scale datasets 1 2 (2016) (0)
- Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns (2019) (0)
- Bayesian methods for estimating human ancestry using whole genome SNP data (2012) (0)
- Shared polygenic effects of FEV1 in the first genetic study in UK Biobank (2015) (0)
- Talk in ASHG 2008 Philadelphia PA (2008) (0)
- Chapter 10 – Genotype Imputation (2011) (0)
- Imputation in genome-wide association analysis (2017) (0)
- Rare coding variants in CHRNB2 reduce the likelihood of smoking (2022) (0)
- Identification of common genetic risk variants for autism spectrum disorder (2019) (0)
- Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data (2019) (0)
- 48 COVID-19 and H1N1 Pneumonia: Reanalysis and Comparison of Two Cohorts (2022) (0)
- Statistical methods for genotype microarray data on large cohorts of individuals (2014) (0)
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