Jonathan K. Pritchard
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British geneticist
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Biology
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Evolutionary Biology
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Genetics
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#132
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Biology
Jonathan K. Pritchard's Degrees
- Bachelors Biology University of Oxford
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Why Is Jonathan K. Pritchard Influential?
(Suggest an Edit or Addition)According to Wikipedia, Jonathan Karl Pritchard is an English-born professor of genetics at Stanford University, best known for his development of the STRUCTURE algorithm for studying population structure and his work on human genetic variation and evolution. His research interests lie in the study of human evolution, in particular in understanding the association between genetic variation among human individuals and human traits.
Jonathan K. Pritchard'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
- Inference of population structure using multilocus genotype data. (2000) (30260)
- Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. (2003) (8163)
- The Genotype-Tissue Expression (GTEx) project (2013) (6030)
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans (2015) (3904)
- Inference of population structure using multilocus genotype data: dominant markers and null alleles (2007) (3620)
- Inferring weak population structure with the assistance of sample group information (2009) (3115)
- Genetic Structure of Human Populations (2002) (2661)
- A Map of Recent Positive Selection in the Human Genome (2006) (2502)
- An Expanded View of Complex Traits: From Polygenic to Omnigenic (2017) (2014)
- Association mapping in structured populations. (2000) (1906)
- Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data (2012) (1743)
- Convergent adaptation of human lactase persistence in Africa and Europe (2007) (1353)
- Understanding mechanisms underlying human gene expression variation with RNA sequencing (2010) (1277)
- Use of unlinked genetic markers to detect population stratification in association studies. (1999) (1249)
- Are rare variants responsible for susceptibility to complex diseases? (2001) (1237)
- Linkage disequilibrium in humans: models and data. (2001) (1236)
- fastSTRUCTURE: Variational Inference of Population Structure in Large SNP Data Sets (2014) (1141)
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes (2012) (1127)
- Documentation for structure software : Version 2 . 3 (2009) (1095)
- Population growth of human Y chromosomes: a study of Y chromosome microsatellites. (1999) (1086)
- Traces of Human Migrations in Helicobacter pylori Populations (2003) (945)
- The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation (2010) (829)
- DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines (2011) (799)
- Lineage-specific and single cell chromatin accessibility charts human hematopoiesis and leukemia evolution (2016) (797)
- Signals of recent positive selection in a worldwide sample of human populations. (2009) (730)
- The allelic architecture of human disease genes: common disease-common variant...or not? (2002) (728)
- A high-resolution survey of deletion polymorphism in the human genome (2006) (710)
- Haplotype blocks and linkage disequilibrium in the human genome (2003) (659)
- Using Environmental Correlations to Identify Loci Underlying Local Adaptation (2010) (649)
- Informativeness of genetic markers for inference of ancestry. (2003) (643)
- DNaseI sensitivity QTLs are a major determinant of human expression variation (2011) (614)
- Sequencing and Analysis of Neanderthal Genomic DNA (2006) (575)
- High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation (2008) (573)
- Clines, Clusters, and the Effect of Study Design on the Inference of Human Population Structure (2005) (563)
- Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data. (2011) (550)
- A worldwide survey of haplotype variation and linkage disequilibrium in the human genome (2006) (526)
- Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data (2009) (495)
- Revealing the architecture of gene regulation: the promise of eQTL studies. (2008) (492)
- Tracing the peopling of the world through genomics (2017) (479)
- Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis (2018) (451)
- RNA splicing is a primary link between genetic variation and disease (2016) (448)
- Adaptation – not by sweeps alone (2010) (427)
- DNA Sequence-Dependent Compartmentalization and Silencing of Chromatin at the Nuclear Lamina (2012) (416)
- Identification of Genetic Variants That Affect Histone Modifications in Human Cells (2013) (412)
- The Role of Geography in Human Adaptation (2009) (406)
- Case-control studies of association in structured or admixed populations. (2001) (406)
- Clonal Origin and Evolution of a Transmissible Cancer (2006) (402)
- Overcoming the winner's curse: estimating penetrance parameters from case-control data. (2007) (394)
- Annotation-free quantification of RNA splicing using LeafCutter (2017) (377)
- WASP: allele-specific software for robust molecular quantitative trait locus discovery (2015) (362)
- High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans (2008) (349)
- Recent common ancestry of human Y chromosomes: evidence from DNA sequence data. (2000) (348)
- Impact of regulatory variation from RNA to protein (2015) (345)
- Correction: A Map of Recent Positive Selection in the Human Genome (2006) (341)
- Detection of human adaptation during the past 2000 years (2016) (302)
- Trans Effects on Gene Expression Can Drive Omnigenic Inheritance (2018) (295)
- Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression (2021) (284)
- Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions (2015) (282)
- Noisy Splicing Drives mRNA Isoform Diversity in Human Cells (2010) (278)
- An introduction to population genetics (2001) (278)
- Adaptations to Climate in Candidate Genes for Common Metabolic Disorders (2008) (276)
- Adaptations to Climate-Mediated Selective Pressures in Humans (2011) (265)
- Genetics of 35 blood and urine biomarkers in the UK Biobank (2019) (262)
- Controls of Nucleosome Positioning in the Human Genome (2012) (262)
- Abundant contribution of short tandem repeats to gene expression variation in humans (2015) (260)
- Reduced signal for polygenic adaptation of height in UK Biobank (2018) (260)
- Efficient counting of k-mers in DNA sequences using a bloom filter (2011) (256)
- Batch effects and the effective design of single-cell gene expression studies (2016) (256)
- The deleterious mutation load is insensitive to recent population history (2013) (255)
- Genomics: ENCODE explained (2012) (250)
- A Statistical Framework for Joint eQTL Analysis in Multiple Tissues (2012) (250)
- Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases (2016) (242)
- Methylation QTLs Are Associated with Coordinated Changes in Transcription Factor Binding, Histone Modifications, and Gene Expression Levels (2014) (233)
- Variable prediction accuracy of polygenic scores within an ancestry group (2019) (217)
- Primate Transcript and Protein Expression Levels Evolve Under Compensatory Selection Pressures (2013) (216)
- Confounding from Cryptic Relatedness in Case-Control Association Studies (2005) (216)
- A Genome-Wide Study of DNA Methylation Patterns and Gene Expression Levels in Multiple Human and Chimpanzee Tissues (2011) (201)
- Completing the map of human genetic variation (2007) (199)
- Dissecting the regulatory architecture of gene expression QTLs (2012) (197)
- The Functional Consequences of Variation in Transcription Factor Binding (2013) (181)
- The Genetic Architecture of Adaptations to High Altitude in Ethiopia (2012) (177)
- Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency (2010) (171)
- Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases (2015) (167)
- Assessing the performance of the haplotype block model of linkage disequilibrium. (2003) (160)
- Admixture facilitates genetic adaptations to high altitude in Tibet (2014) (156)
- Statistical tests for admixture mapping with case-control and cases-only data. (2004) (152)
- Landscape of stimulation-responsive chromatin across diverse human immune cells (2018) (151)
- Coalescent-Based Association Mapping and Fine Mapping of Complex Trait Loci (2005) (149)
- The Genetic and Mechanistic Basis for Variation in Gene Regulation (2015) (146)
- Comparative RNA sequencing reveals substantial genetic variation in endangered primates. (2012) (139)
- Chromatin accessibility dynamics in a model of human forebrain development (2020) (131)
- Variational Inference of Population Structure in Large SNP Datasets (2013) (130)
- Characterizing natural variation using next-generation sequencing technologies. (2009) (129)
- Rapid evolution of the human mutation spectrum (2016) (128)
- Superfamilies of Evolved and Designed Networks (2004) (127)
- Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals (2016) (123)
- Genetic variation in MHC proteins is associated with T cell receptor expression biases (2016) (120)
- Functional Genetic Variants Revealed by Massively Parallel Precise Genome Editing (2018) (119)
- Evidence for extensive transmission distortion in the human genome. (2004) (111)
- Ancient Rome: A genetic crossroads of Europe and the Mediterranean (2019) (107)
- Genetic Variation, Not Cell Type of Origin, Underlies the Majority of Identifiable Regulatory Differences in iPSCs (2016) (103)
- Large-Scale Clonal Analysis Resolves Aging of the Mouse Hematopoietic Stem Cell Compartment (2018) (102)
- The Contribution of RNA Decay Quantitative Trait Loci to Inter-Individual Variation in Steady-State Gene Expression Levels (2012) (101)
- Gene Expression Levels Are a Target of Recent Natural Selection in the Human Genome (2008) (97)
- Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling (2015) (96)
- Impact of regulatory variation across human iPSCs and differentiated cells (2016) (95)
- Adaptive Evolution of Conserved Noncoding Elements in Mammals (2007) (90)
- Comment on “Widespread RNA and DNA Sequence Differences in the Human Transcriptome” (2012) (87)
- Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression. (2017) (83)
- False positive peaks in ChIP-seq and other sequencing-based functional assays caused by unannotated high copy number regions (2011) (79)
- Perspectives on ENCODE (2020) (79)
- Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes (2017) (70)
- Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2018) (70)
- Epigenetic modifications are associated with inter-species gene expression variation in primates (2014) (68)
- Genome-wide association study of behavioral, physiological and gene expression traits in commercially available outbred CFW mice (2016) (68)
- Haplotypic background of a private allele at high frequency in the Americas. (2009) (66)
- GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background (2020) (65)
- Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase (2019) (63)
- A Genome Sequence Resource for the Aye-Aye (Daubentonia madagascariensis), a Nocturnal Lemur from Madagascar (2011) (57)
- Sequencing and Analysis of (2006) (55)
- Statistics for microsatellite variation based on coalescence. (1996) (55)
- Quantification of transplant-derived circulating cell-free DNA in absence of a donor genotype (2017) (52)
- High‐resolution mapping of cancer cell networks using co‐functional interactions (2018) (51)
- Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans (2016) (49)
- Haplotype variation and genotype imputation in African populations (2011) (44)
- Deconstructing maize population structure (2001) (44)
- Distinctive genetic signatures in the Libyan Jews. (2001) (43)
- Using Population Mixtures to Optimize the Utility of Genomic Databases: Linkage Disequilibrium and Association Study Design in India (2008) (39)
- Evidence for Weak Selective Constraint on Human Gene Expression (2018) (38)
- The chromatin architectural proteins HMGD1 and H1 bind reciprocally and have opposite effects on chromatin structure and gene regulation (2014) (37)
- Frequent nonallelic gene conversion on the human lineage and its effect on the divergence of gene duplicates (2017) (34)
- LeafCutter: annotation-free quantification of RNA splicing (2016) (34)
- Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery (2022) (33)
- msCentipede: Modeling Heterogeneity across Genomic Sites and Replicates Improves Accuracy in the Inference of Transcription Factor Binding (2015) (32)
- Shared heritability of human face and brain shape (2021) (32)
- How we are evolving. (2010) (29)
- Correction: DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines (2011) (26)
- An approximate likelihood for genetic data under a model with recombination and population splitting. (2009) (26)
- Post-translational buffering leads to convergent protein expression levels between primates (2018) (25)
- Reprogramming LCLs to iPSCs Results in Recovery of Donor-Specific Gene Expression Signature (2015) (25)
- Mutation and migration in models of microsatellite evolution (1999) (25)
- Response to Comment on "Genetic Structure of Human Populations" (2003) (24)
- Systematic discovery and perturbation of regulatory genes in human T cells reveals the architecture of immune networks (2021) (24)
- The Effect of Freeze-Thaw Cycles on Gene Expression Levels in Lymphoblastoid Cell Lines (2014) (22)
- Whole-genome sequencing data offer insights into human demography (2011) (22)
- RNA editing underlies genetic risk of common inflammatory diseases (2022) (22)
- Ancient Mammalian and Plant DNA from Late Quaternary Stalagmite Layers at Solkota Cave, Georgia (2019) (19)
- A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density (2021) (18)
- Remodeling the Specificity of an Endosomal CORVET Tether Underlies Formation of Regulated Secretory Vesicles in the Ciliate Tetrahymena thermophila (2018) (18)
- WASP: allele-specific software for robust discovery of molecular quantitative trait loci (2014) (17)
- Exon-Specific QTLs Skew the Inferred Distribution of Expression QTLs Detected Using Gene Expression Array Data (2012) (17)
- Adaptive drool in the gene pool (2007) (17)
- Inflammation-induced disruption of SCS macrophages impairs B cell responses to secondary infection (16)
- Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits (2022) (15)
- A natural mutator allele shapes mutation spectrum variation in mice (2022) (15)
- Inference of population structure in recently admixed populations. (2002) (14)
- Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire (2018) (14)
- Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase (2020) (13)
- Public Discussion Affects Question Asking at Academic Conferences. (2019) (12)
- Refining deep brain stimulation to emulate optogenetic treatment of synaptic pathology (10)
- The Effects of Genotype-Dependent Recombination, and Transmission Asymmetry, on Linkage Disequilibrium (2006) (10)
- Whole Genome Sequencing Identifies a Novel Factor Required for Secretory Granule Maturation in Tetrahymena thermophila (2016) (10)
- The Omnigenic Model: Response from the Authors (2017) (10)
- High-resolution mapping of expression-QTLs yields insight into human gene regulation . Supplementary Methods (2008) (9)
- Association mapping and fine mapping with TreeLD (2005) (9)
- Genetic data and the african origin of humans. (1996) (8)
- A flexible modeling and inference framework for estimating variant effect sizes from GWAS summary statistics (2022) (8)
- Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation (2022) (7)
- Large-Scale Differentiable Causal Discovery of Factor Graphs (2022) (7)
- A Bibliometric History of the Journal GENETICS (2016) (6)
- A wild-derived antimutator drives germline mutation spectrum differences in a genetically diverse murine family (2021) (6)
- SciReader: A Cloud-based Recommender System for Biomedical Literature (2018) (5)
- Genetic Data and the African Origin of Humans (1996) (5)
- Measurement of selective constraint on human gene expression (2018) (5)
- Effect sizes of causal variants for gene expression and complex traits differ between populations (2021) (5)
- Genetic Variation, Not Cell Type of Origin, Underlies Regulatory Differences in iPSCs (2015) (4)
- Learning Causal Representations of Single Cells via Sparse Mechanism Shift Modeling (2022) (4)
- Effects of variable mutation rates and epistasis on the distribution of allele frequencies in humans (2016) (4)
- Correction: A Map of Recent Positive Selection in the Human Genome (2007) (3)
- A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice (2022) (3)
- Long-term survival of duplicate genes despite absence of subfunctionalized expression. (2015) (3)
- Simple scaling laws control the genetic architectures of human complex traits (2022) (3)
- Precise modulation of transcription factor levels reveals drivers of dosage sensitivity (2022) (3)
- Archaic humans: Four makes a party (2013) (3)
- Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank (2021) (2)
- Genes and Common Diseases: Population genetics and disease (2007) (2)
- A comprehensive rRNA variation atlas in health and disease (2023) (2)
- Epigenetic modifications are associated with inter-species gene expression variation in primates (2014) (2)
- msCentipede: Modeling heterogeneity across genomic sites improves accuracy in the inference of transcription factor binding (2014) (2)
- Use of a Local Approximation to the Ancestral Recombination Graph for Fine Mapping Disease Genes (2002) (2)
- Private and sub-family specific mutations of founder haplotypes in the BXD family reveal phenotypic consequences relevant to health and disease (2022) (2)
- Inferring relevant cell types for complex traits using single-cell gene expression (2017) (2)
- A Genetic History of Continuity and Mobility in the Iron Age Central Mediterranean (2023) (1)
- Ancient Trans-Species Polymorphism at the Major Histocompatibility Complex in Primates (2022) (1)
- Shared heritability of face and brain shape distinct from cognitive traits (2020) (1)
- The chromatin architectural proteins HMGD1 and H1 bind reciprocally and have opposite effects on chromatin structure and gene regulation (2014) (1)
- Convergent mutations in tissue-specific regulatory regions reveal novel cancer drivers (2020) (1)
- human populations Signals of recent positive selection in a worldwide sample of Material Supplemental (2009) (1)
- Post-translational buffering leads to convergent protein expression levels between primates (2018) (1)
- Genetic variation in gene regulation (2015) (1)
- Stable population structure in Europe since the Iron Age, despite high mobility (2022) (1)
- Precise modulation of transcription factor levels identifies features underlying dosage sensitivity. (2023) (1)
- Correction: The Genetic Correlation between Height and IQ: Shared Genes or Assortative Mating? (2014) (1)
- Supplementary material for : The role of geography in human adaptation (2009) (1)
- Dissecting the regulatory architecture of gene expression QTLs (2012) (1)
- Compensatory Selection Pressures Primate Transcript and Protein Expression Levels Evolve Under (2013) (0)
- Protocells Nonenzymatic Template-Directed RNA Synthesis Inside Model (2013) (0)
- A genome-wide genetic screen uncovers novel determinants of human pigmentation (2021) (0)
- Frequent non-allelic gene conversion on the human lineage and its effect on the divergence of gene duplicates (2017) (0)
- A genomic study of the contribution of DNA methylation to regulatory evolution in primates (2014) (0)
- Author Correction: Perspectives on ENCODE (2022) (0)
- Faculty Opinions recommendation of Population history and natural selection shape patterns of genetic variation in 132 genes. (2004) (0)
- Annotation-free quantification of RNA splicing using LeafCutter (2017) (0)
- Daniel Falush , Populations Helicobacter pyloriTraces of Human Migrations in (2007) (0)
- ASHG 2013 Poster - The Functional Consequences of Variation in Transcription Factor Binding (2014) (0)
- Documentation for STRAT software (2000) (0)
- Detecting and correcting for population structure in genetic case-control studies (2004) (0)
- Large-Scale Clonal Analys is Resolves Aging of the Mouse Hematopoietic Stem Cell Compartment Graphical (0)
- The functional impact of rare variation across the regulatory cascade (2022) (0)
- An evolutionary switch in the specificity of an endosomal CORVET tether underlies formation of regulated secretory vesicles in the ciliate Tetrahymena thermophila (2017) (0)
- Genetic mapping of X-linked mental retardation genes with short tandem repeat polymorphisms (1994) (0)
- THE OMNIGENIC ARCHITECTURE OF HUMAN COMPLEX TRAITS (2019) (0)
- On the number of genealogical ancestors tracing to the source groups of an admixed population (2022) (0)
- A Coalescent-Based Approach for Complex Disease Mapping (2002) (0)
- Subfunctionalized expression drives evolutionary retention of ribosomal protein paralogs in vertebrates (2022) (0)
- Author response: Rapid evolution of the human mutation spectrum (2017) (0)
- Sequence analysis Association mapping and fine mapping with TreeLD (2005) (0)
- Is competition for cellular resources a driver of complex trait heritability? (2022) (0)
- sequence and chromatin accessibility data Accurate inference of transcription factor binding from DNA Material (2010) (0)
- Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes (2022) (0)
- An Archaeogenetic Approach to Studying the Demographic History of Rome (2019) (0)
- SA22 PERFORMANCE OF POLYGENIC SCORES ACROSS ANCESTRALLY DIVERSE POPULATIONS: SCIENTIFIC AND ETHICAL CONSIDERATIONS (2019) (0)
- Statistical inference of eQTL sharing among many tissues (2021) (0)
- First-Author Peer-Reviewed Publications (* equal contribution) (2014) (0)
- Supplementary Materials for: Variable portability of polygenic scores within an ancestry group (2019) (0)
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