Pritchard, Jonathan K.

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 5,062

Inferring weak population structure with the assistance of sample group information

HUBISZ, M. J., FALUSH, D., STEPHENS, M., & PRITCHARD, J. K. (2009) · Molecular Ecology Resources

Genetic diversity and population structureForensic and Genetic Research

Cited by 3,475

An Expanded View of Complex Traits: From Polygenic to Omnigenic

Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017) · Cell

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 2,851

Inference of population splits and mixtures from genome-wide allele frequency data

Pickrell, J. K., & Pritchard, J. K. (2012) · PLoS Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 2,731

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Kasela, S., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,607

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,607

Expanded encyclopaedias of DNA elements in the human and mouse genomes

The ENCODE Project Consortium, Abascal, F., Acosta, R., Addleman, N. J., Adrian, J., Afzal, V., Ai, R., Aken, B., Akiyama, J. A., Jammal, O. A., et al. (2020) · Nature

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 2,378

Convergent adaptation of human lactase persistence in Africa and Europe

Tishkoff, S. A., Reed, F. A., Ranciaro, A., Voight, B. F., Babbitt, C. C., Silverman, J. S., Powell, K., Mortensen, H. M., Hirbo, J. B., Osman, M., et al. (2007) · Nature Genetics

Digestive system and related healthGenetic and phenotypic traits in livestock

Cited by 1,615

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

Understanding mechanisms underlying human gene expression variation with RNA sequencing

Pickrell, J. K., Marioni, J. C., Pai, A. A., Degner, J. F., Engelhardt, B. E., Nkadori, E., Veyrieras, J.-B., Stephens, M., Gilad, Y., & Pritchard, J. K. (2010) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,256

Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies

Pritchard, J. K., & Rosenberg, N. A. (1999) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,198

Are Rare Variants Responsible for Susceptibility to Complex Diseases?

Pritchard, J. K. (2001) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyEvolution and Genetic Dynamics

Cited by 1,197

Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution

Corces, M. R., Buenrostro, J. D., Wu, B., Greenside, P. G., Chan, S. M., Koenig, J. L., Snyder, M. P., Pritchard, J. K., Kundaje, A., Greenleaf, W. J., et al. (2016) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 1,151

The genetics of human adaptation: hard sweeps, soft sweeps, and polygenic adaptation

Pritchard, J. K., Pickrell, J. K., & Coop, G. (2010) · Current Biology

Evolution and Genetic DynamicsForensic and Genetic Research

Cited by 932

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

Bell, J. T., Pai, A. A., Pickrell, J. K., Gaffney, D. J., Pique-Regi, R., Degner, J. F., Gilad, Y., & Pritchard, J. K. (2011) · Genome Biology

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 838

Annotation-free quantification of RNA splicing using LeafCutter

Li, Y. I., Knowles, D. A., Humphrey, J., Barbeira, A. N., Dickinson, S. P., Im, H. K., & Pritchard, J. K. (2018) · Nature Genetics

RNA Research and SplicingGenomics and Phylogenetic Studies

Cited by 765

Genetics of 35 blood and urine biomarkers in the UK Biobank

Sinnott-Armstrong, N., Tanigawa, Y., Amar, D., Mars, N., Benner, C., Aguirre, M., Venkataraman, G. R., Wainberg, M., Ollila, H. M., Kiiskinen, T., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 744

Tracing the peopling of the world through genomics

Nielsen, R., Akey, J. M., Jakobsson, M., Pritchard, J. K., Tishkoff, S., & Willerslev, E. (2017) · Nature

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 728

Signals of recent positive selection in a worldwide sample of human populations

Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 717

The allelic architecture of human disease genes: common disease-common variant... or not?

Pritchard, J. K. (2002) · Human Molecular Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 711

RNA splicing is a primary link between genetic variation and disease

Li, Y. I., van de Geijn, B., Raj, A., Knowles, D. A., Petti, A. A., Golan, D., Gilad, Y., & Pritchard, J. K. (2016) · Science

RNA Research and SplicingGenetic Associations and Epidemiology

Cited by 660

Haplotype blocks and linkage disequilibrium in the human genome

Wall, J. D., & Pritchard, J. K. (2003) · Nature Reviews Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 642

Sequencing and analysis of Neanderthal genomic DNA

Noonan, J. P., Coop, G., Kudaravalli, S., Smith, D., Krause, J., Alessi, J., Chen, F., Platt, D., Pääbo, S., Pritchard, J. K., et al. (2006) · Science

Pleistocene-Era Hominins and ArchaeologyGenomics and Phylogenetic Studies

Cited by 629

WASP: allele-specific software for robust molecular quantitative trait locus discovery

van de Geijn, B., McVicker, G., Gilad, Y., & Pritchard, J. K. (2015) · Nature Methods

Genomics and Phylogenetic StudiesGenetic Mapping and Diversity in Plants and Animals

Cited by 575