J
Joseph K. Pickrell
Researcher at Columbia University
Publications - 81
Citations - 22228
Joseph K. Pickrell is an academic researcher from Columbia University. The author has contributed to research in topics: Population & Genome-wide association study. The author has an hindex of 42, co-authored 76 publications receiving 18716 citations. Previous affiliations of Joseph K. Pickrell include University of Paris-Sud & Howard Hughes Medical Institute.
Papers
More filters
Journal ArticleDOI
Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data
TL;DR: A statistical model for inferring the patterns of population splits and mixtures in multiple populations and it is shown that a simple bifurcating tree does not fully describe the data; in contrast, many migration events are inferred.
Journal ArticleDOI
The complete genome sequence of a Neanderthal from the Altai Mountains
Kay Prüfer,Fernando Racimo,Nick Patterson,Flora Jay,Sriram Sankararaman,Susanna Sawyer,Anja Heinze,Gabriel Renaud,Peter H. Sudmant,Cesare de Filippo,Heng Li,Swapan Mallick,Michael Dannemann,Qiaomei Fu,Martin Kircher,Martin Kuhlwilm,Michael Lachmann,Matthias Meyer,Matthias Ongyerth,Michael Siebauer,Christoph Theunert,Arti Tandon,Priya Moorjani,Joseph K. Pickrell,James C. Mullikin,Samuel H. Vohr,Richard E. Green,Ines Hellmann,Philip L. F. Johnson,Hélène Blanché,Howard M. Cann,Jacob O. Kitzman,Jay Shendure,Evan E. Eichler,Ed S. Lein,Trygve E. Bakken,Liubov V. Golovanova,Vladimir B. Doronichev,Michael V. Shunkov,A.P. Derevianko,Bence Viola,Montgomery Slatkin,David Reich,Janet Kelso,Svante Pääbo +44 more
TL;DR: It is shown that interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene and a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans is established.
Journal ArticleDOI
Understanding mechanisms underlying human gene expression variation with RNA sequencing
Joseph K. Pickrell,John C. Marioni,Athma A. Pai,Jacob F. Degner,Barbara E. Engelhardt,Everlyne Nkadori,Jean-Baptiste Veyrieras,Matthew Stephens,Yoav Gilad,Jonathan K. Pritchard +9 more
TL;DR: It is demonstrated that eQTLs near genes generally act by a mechanism involving allele-specific expression, and that variation that influences the inclusion of an exon is enriched within and near the consensus splice sites.
Journal ArticleDOI
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur,Daniel G. MacArthur,Suganthi Balasubramanian,Adam Frankish,Ni Huang,James Morris,Klaudia Walter,Luke Jostins,Lukas Habegger,Joseph K. Pickrell,Stephen B. Montgomery,Stephen B. Montgomery,Cornelis A. Albers,Cornelis A. Albers,Zhengdong D. Zhang,Donald F. Conrad,Gerton Lunter,Hancheng Zheng,Qasim Ayub,Mark A. DePristo,Eric Banks,Min Hu,Robert E. Handsaker,Robert E. Handsaker,Jeffrey A. Rosenfeld,Menachem Fromer,Mike Jin,Xinmeng Jasmine Mu,Ekta Khurana,Kai Ye,M. Kay,Gary Saunders,Marie-Marthe Suner,Toby Hunt,If H. A. Barnes,Clara Amid,Denise Carvalho-Silva,Alexandra Bignell,Catherine E. Snow,Bryndis Yngvadottir,Suzannah Bumpstead,David Neil Cooper,Yali Xue,Irene Gallego Romero,Irene Gallego Romero,Jun Wang,Yingrui Li,Richard A. Gibbs,Steven A. McCarroll,Steven A. McCarroll,Emmanouil T. Dermitzakis,Jonathan K. Pritchard,Jeffrey C. Barrett,Jennifer Harrow,Matthew E. Hurles,Mark Gerstein,Chris Tyler-Smith +56 more
TL;DR: Functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies are described.
Journal ArticleDOI
Genome-wide association study identifies 74 loci associated with educational attainment
Aysu Okbay,Jonathan P. Beauchamp,Mark Alan Fontana,James J. Lee,Tune H. Pers,Cornelius A. Rietveld,Patrick Turley,Guo-Bo Chen,Valur Emilsson,S. Fleur W. Meddens,S. Fleur W. Meddens,S. Fleur W. Meddens,Sven Oskarsson,Joseph K. Pickrell,Kevin Thom,Pascal Timshel,Pascal Timshel,Ronald de Vlaming,Abdel Abdellaoui,Tarunveer S. Ahluwalia,Tarunveer S. Ahluwalia,Jonas Bacelis,Clemens Baumbach,Gyda Bjornsdottir,Johannes H. Brandsma,Maria Pina Concas,Jaime Derringer,Nicholas A. Furlotte,Tessel E. Galesloot,Giorgia Girotto,Richa Gupta,Leanne M. Hall,Leanne M. Hall,Sarah E. Harris,Edith Hofer,Momoko Horikoshi,Momoko Horikoshi,Jennifer E. Huffman,Kadri Kaasik,Ioanna P. Kalafati,Robert Karlsson,Augustine Kong,Jari Lahti,Sven J. van der Lee,C. deLeeuw,C. deLeeuw,Penelope A. Lind,Karl-Oskar Lindgren,Tian Liu,Massimo Mangino,Massimo Mangino,Jonathan Marten,Evelin Mihailov,Michael B. Miller,Peter J. van der Most,Christopher Oldmeadow,Antony Payton,Natalia Pervjakova,Natalia Pervjakova,Wouter J. Peyrot,Yong Qian,Olli T. Raitakari,Rico Rueedi,Rico Rueedi,Erika Salvi,Börge Schmidt,Katharina E. Schraut,Jianxin Shi,Albert V. Smith,Raymond A. Poot,Beate St Pourcain,Alexander Teumer,Gudmar Thorleifsson,Niek Verweij,Dragana Vuckovic,Juergen Wellmann,Harm-Jan Westra,Harm-Jan Westra,Jingyun Yang,Wei Zhao,Zhihong Zhu,Behrooz Z. Alizadeh,Najaf Amin,Andrew Bakshi,Sebastian E. Baumeister,Sebastian E. Baumeister,Ginevra Biino,Klaus Bønnelykke,Patricia A. Boyle,Harry Campbell,Francesco P. Cappuccio,Gail Davies,Jan-Emmanuel De Neve,Panos Deloukas,Panos Deloukas,Ilja Demuth,Jun Ding,Peter Eibich,Peter Eibich,Lewin Eisele,Niina Eklund,David M. Evans,David M. Evans,Jessica D. Faul,Mary F. Feitosa,Andreas J. Forstner,Ilaria Gandin,Bjarni Gunnarsson,Bjarni V. Halldorsson,Bjarni V. Halldorsson,Tamara B. Harris,Andrew C. Heath,Lynne J. Hocking,Elizabeth G. Holliday,Georg Homuth,Michael A. Horan,Jouke-Jan Hottenga,Philip L. De Jager,Philip L. De Jager,Philip L. De Jager,Peter K. Joshi,Astanand Jugessur,Marika Kaakinen,Mika Kähönen,Stavroula Kanoni,Liisa Keltigangas-Jarvinen,Lambertus A. Kiemeney,Ivana Kolcic,Seppo Koskinen,Aldi T. Kraja,Martin Kroh,Zoltán Kutalik,Zoltán Kutalik,Antti Latvala,Lenore J. Launer,Maël Lebreton,Douglas F. Levinson,Paul Lichtenstein,Peter Lichtner,David C. Liewald,Anu Loukola,Pamela A. F. Madden,Reedik Mägi,Tomi Mäki-Opas,Riccardo E. Marioni,Riccardo E. Marioni,Pedro Marques-Vidal,Gerardus A. Meddens,George McMahon,Christa Meisinger,Thomas Meitinger,Y. Milaneschi,Lili Milani,Grant W. Montgomery,Ronny Myhre,Christopher P. Nelson,Christopher P. Nelson,Dale R. Nyholt,William E R Ollier,Aarno Palotie,Lavinia Paternoster,Nancy L. Pedersen,K. Petrovic,David J. Porteous,Katri Räikkönen,Susan M. Ring,Antonietta Robino,Olga Rostapshova,Igor Rudan,Aldo Rustichini,Veikko Salomaa,Alan R. Sanders,Alan R. Sanders,Antti-Pekka Sarin,Antti-Pekka Sarin,Helena Schmidt,Rodney J. Scott,Blair H. Smith,Jennifer A. Smith,Jan A. Staessen,Jan A. Staessen,Elisabeth Steinhagen-Thiessen,Konstantin Strauch,Antonio Terracciano,Martin D. Tobin,Sheila Ulivi,Simona Vaccargiu,Lydia Quaye,Frank J. A. van Rooij,Cristina Venturini,Cristina Venturini,Anna A. E. Vinkhuyzen,Uwe Völker,Henry Völzke,Judith M. Vonk,Diego Vozzi,Johannes Waage,Johannes Waage,Erin B. Ware,Gonneke Willemsen,John Attia,David A. Bennett,Klaus Berger,Lars Bertram,Lars Bertram,Hans Bisgaard,Dorret I. Boomsma,Ingrid B. Borecki,Ute Bültmann,Christopher F. Chabris,Francesco Cucca,Daniele Cusi,Daniele Cusi,Ian J. Deary,George Dedoussis,Cornelia M. van Duijn,Johan G. Eriksson,Barbara Franke,Lude Franke,Paolo Gasparini,Paolo Gasparini,Pablo V. Gejman,Pablo V. Gejman,Christian Gieger,Hans-Jörgen Grabe,Jacob Gratten,Patrick J. F. Groenen,Vilmundur Gudnason,Pim van der Harst,Caroline Hayward,David A. Hinds,Wolfgang Hoffmann,Elina Hyppönen,Elina Hyppönen,William G. Iacono,Bo Jacobsson,Marjo-Riitta Järvelin,Karl-Heinz Jöckel,Jaakko Kaprio,Jaakko Kaprio,Sharon L.R. Kardia,Terho Lehtimäki,Steven F. Lehrer,Steven F. Lehrer,Patrik K. E. Magnusson,Nicholas G. Martin,Matt McGue,Andres Metspalu,Neil Pendleton,Neil Pendleton,Brenda W.J.H. Penninx,Markus Perola,Markus Perola,Nicola Pirastu,Mario Pirastu,Ozren Polasek,Ozren Polasek,Danielle Posthuma,Christine Power,Michael A. Province,Nilesh J. Samani,Nilesh J. Samani,David Schlessinger,Reinhold Schmidt,Thorkild I. A. Sørensen,Thorkild I. A. Sørensen,Tim D. Spector,Kari Stefansson,Kari Stefansson,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Roy Thurik,Nicholas J. Timpson,Henning Tiemeier,Joyce Y. Tung,André G. Uitterlinden,Veronique Vitart,Peter Vollenweider,David R. Weir,James F. Wilson,Alan F. Wright,Dalton Conley,Robert F. Krueger,George Davey Smith,Albert Hofman,David Laibson,Sarah E. Medland,Michelle N. Meyer,Jian Yang,Magnus Johannesson,Peter M. Visscher,Tõnu Esko,Philipp Koellinger,Philipp Koellinger,Philipp Koellinger,David Cesarini,Daniel J. Benjamin +296 more
TL;DR: In this article, the results of a genome-wide association study (GWAS) for educational attainment were reported, showing that single-nucleotide polymorphisms associated with educational attainment disproportionately occur in genomic regions regulating gene expression in the fetal brain.