Literature DB >> 27548312

A reference panel of 64,976 haplotypes for genotype imputation.

Shane McCarthy1, Sayantan Das2,3, Warren Kretzschmar4, Olivier Delaneau5, Andrew R Wood6, Alexander Teumer7,8, Hyun Min Kang2,3, Christian Fuchsberger2,3, Petr Danecek9, Kevin Sharp10, Yang Luo1, Carlo Sidore11, Alan Kwong2,3, Nicholas Timpson12, Seppo Koskinen13, Scott Vrieze14,15, Laura J Scott2,3, He Zhang16, Anubha Mahajan4, Jan Veldink17, Ulrike Peters18,19, Carlos Pato20, Cornelia M van Duijn21, Christopher E Gillies22, Ilaria Gandin23, Massimo Mezzavilla24,25, Arthur Gilly1, Massimiliano Cocca23, Michela Traglia26, Andrea Angius11, Jeffrey C Barrett1, Dorrett Boomsma27, Kari Branham28, Gerome Breen29,30, Chad M Brummett31, Fabio Busonero11, Harry Campbell32, Andrew Chan32,33, Sai Chen2,3,34,35, Emily Chew36, Francis S Collins37, Laura J Corbin12, George Davey Smith12, George Dedoussis38, Marcus Dorr39,40, Aliki-Eleni Farmaki38, Luigi Ferrucci41, Lukas Forer42, Ross M Fraser31, Stacey Gabriel43, Shawn Levy44, Leif Groop45,46,47, Tabitha Harrison18, Andrew Hattersley48, Oddgeir L Holmen49, Kristian Hveem49, Matthias Kretzler34,35,50, James C Lee51,52, Matt McGue53, Thomas Meitinger54,55,56, David Melzer57, Josine L Min12, Karen L Mohlke58, John B Vincent59,60,61, Matthias Nauck8,40, Deborah Nickerson62, Aarno Palotie43,63,64,65,66,67, Michele Pato20, Nicola Pirastu23, Melvin McInnis68, J Brent Richards69,70,71, Cinzia Sala26, Veikko Salomaa13, David Schlessinger72, Sebastian Schoenherr42, P Eline Slagboom73, Kerrin Small71, Timothy Spector71, Dwight Stambolian74, Marcus Tuke6, Jaakko Tuomilehto75,76,77,78, Leonard H Van den Berg17, Wouter Van Rheenen17, Uwe Volker40,79, Cisca Wijmenga80, Daniela Toniolo26, Eleftheria Zeggini1, Paolo Gasparini23,25, Matthew G Sampson22, James F Wilson32,81, Timothy Frayling6, Paul I W de Bakker82,83, Morris A Swertz80,84, Steven McCarroll85,86, Charles Kooperberg18, Annelot Dekker17, David Altshuler43,65,87,88,89,90, Cristen Willer16,34,35, William Iacono53, Samuli Ripatti91, Nicole Soranzo1,92,93, Klaudia Walter1, Anand Swaroop94, Francesco Cucca11, Carl A Anderson1, Richard M Myers44, Michael Boehnke2,3, Mark I McCarthy4,95,96, Richard Durbin1.   

Abstract

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.

Entities:  

Mesh:

Year:  2016        PMID: 27548312      PMCID: PMC5388176          DOI: 10.1038/ng.3643

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  24 in total

1.  Genetic structure of human populations.

Authors:  Noah A Rosenberg; Jonathan K Pritchard; James L Weber; Howard M Cann; Kenneth K Kidd; Lev A Zhivotovsky; Marcus W Feldman
Journal:  Science       Date:  2002-12-20       Impact factor: 47.728

2.  Cohort profile: the study of health in Pomerania.

Authors:  Henry Völzke; Dietrich Alte; Carsten Oliver Schmidt; Dörte Radke; Roberto Lorbeer; Nele Friedrich; Nicole Aumann; Katharina Lau; Michael Piontek; Gabriele Born; Christoph Havemann; Till Ittermann; Sabine Schipf; Robin Haring; Sebastian E Baumeister; Henri Wallaschofski; Matthias Nauck; Stephanie Frick; Andreas Arnold; Michael Jünger; Julia Mayerle; Matthias Kraft; Markus M Lerch; Marcus Dörr; Thorsten Reffelmann; Klaus Empen; Stephan B Felix; Anne Obst; Beate Koch; Sven Gläser; Ralf Ewert; Ingo Fietze; Thomas Penzel; Martina Dören; Wolfgang Rathmann; Johannes Haerting; Mario Hannemann; Jürgen Röpcke; Ulf Schminke; Clemens Jürgens; Frank Tost; Rainer Rettig; Jan A Kors; Saskia Ungerer; Katrin Hegenscheid; Jens-Peter Kühn; Julia Kühn; Norbert Hosten; Ralf Puls; Jörg Henke; Oliver Gloger; Alexander Teumer; Georg Homuth; Uwe Völker; Christian Schwahn; Birte Holtfreter; Ines Polzer; Thomas Kohlmann; Hans J Grabe; Dieter Rosskopf; Heyo K Kroemer; Thomas Kocher; Reiner Biffar; Ulrich John; Wolfgang Hoffmann
Journal:  Int J Epidemiol       Date:  2010-02-18       Impact factor: 7.196

3.  Serum levels and genotype distribution of α1-antitrypsin in the general population.

Authors:  Ilaria Ferrarotti; Gian Andri Thun; Michele Zorzetto; Stefania Ottaviani; Medea Imboden; Christian Schindler; Arnold von Eckardstein; Lucia Rohrer; Thierry Rochat; Erich W Russi; Nicole M Probst-Hensch; Maurizio Luisetti
Journal:  Thorax       Date:  2012-03-16       Impact factor: 9.139

4.  Whole-genome sequence variation, population structure and demographic history of the Dutch population.

Authors: 
Journal:  Nat Genet       Date:  2014-06-29       Impact factor: 38.330

5.  A second generation human haplotype map of over 3.1 million SNPs.

Authors:  Kelly A Frazer; Dennis G Ballinger; David R Cox; David A Hinds; Laura L Stuve; Richard A Gibbs; John W Belmont; Andrew Boudreau; Paul Hardenbol; Suzanne M Leal; Shiran Pasternak; David A Wheeler; Thomas D Willis; Fuli Yu; Huanming Yang; Changqing Zeng; Yang Gao; Haoran Hu; Weitao Hu; Chaohua Li; Wei Lin; Siqi Liu; Hao Pan; Xiaoli Tang; Jian Wang; Wei Wang; Jun Yu; Bo Zhang; Qingrun Zhang; Hongbin Zhao; Hui Zhao; Jun Zhou; Stacey B Gabriel; Rachel Barry; Brendan Blumenstiel; Amy Camargo; Matthew Defelice; Maura Faggart; Mary Goyette; Supriya Gupta; Jamie Moore; Huy Nguyen; Robert C Onofrio; Melissa Parkin; Jessica Roy; Erich Stahl; Ellen Winchester; Liuda Ziaugra; David Altshuler; Yan Shen; Zhijian Yao; Wei Huang; Xun Chu; Yungang He; Li Jin; Yangfan Liu; Yayun Shen; Weiwei Sun; Haifeng Wang; Yi Wang; Ying Wang; Xiaoyan Xiong; Liang Xu; Mary M Y Waye; Stephen K W Tsui; Hong Xue; J Tze-Fei Wong; Luana M Galver; Jian-Bing Fan; Kevin Gunderson; Sarah S Murray; Arnold R Oliphant; Mark S Chee; Alexandre Montpetit; Fanny Chagnon; Vincent Ferretti; Martin Leboeuf; Jean-François Olivier; Michael S Phillips; Stéphanie Roumy; Clémentine Sallée; Andrei Verner; Thomas J Hudson; Pui-Yan Kwok; Dongmei Cai; Daniel C Koboldt; Raymond D Miller; Ludmila Pawlikowska; Patricia Taillon-Miller; Ming Xiao; Lap-Chee Tsui; William Mak; You Qiang Song; Paul K H Tam; Yusuke Nakamura; Takahisa Kawaguchi; Takuya Kitamoto; Takashi Morizono; Atsushi Nagashima; Yozo Ohnishi; Akihiro Sekine; Toshihiro Tanaka; Tatsuhiko Tsunoda; Panos Deloukas; Christine P Bird; Marcos Delgado; Emmanouil T Dermitzakis; Rhian Gwilliam; Sarah Hunt; Jonathan Morrison; Don Powell; Barbara E Stranger; Pamela Whittaker; David R Bentley; Mark J Daly; Paul I W de Bakker; Jeff Barrett; Yves R Chretien; Julian Maller; Steve McCarroll; Nick Patterson; Itsik Pe'er; Alkes Price; Shaun Purcell; Daniel J Richter; Pardis Sabeti; Richa Saxena; Stephen F Schaffner; Pak C Sham; Patrick Varilly; David Altshuler; Lincoln D Stein; Lalitha Krishnan; Albert Vernon Smith; Marcela K Tello-Ruiz; Gudmundur A Thorisson; Aravinda Chakravarti; Peter E Chen; David J Cutler; Carl S Kashuk; Shin Lin; Gonçalo R Abecasis; Weihua Guan; Yun Li; Heather M Munro; Zhaohui Steve Qin; Daryl J Thomas; Gilean McVean; Adam Auton; Leonardo Bottolo; Niall Cardin; Susana Eyheramendy; Colin Freeman; Jonathan Marchini; Simon Myers; Chris Spencer; Matthew Stephens; Peter Donnelly; Lon R Cardon; Geraldine Clarke; David M Evans; Andrew P Morris; Bruce S Weir; Tatsuhiko Tsunoda; James C Mullikin; Stephen T Sherry; Michael Feolo; Andrew Skol; Houcan Zhang; Changqing Zeng; Hui Zhao; Ichiro Matsuda; Yoshimitsu Fukushima; Darryl R Macer; Eiko Suda; Charles N Rotimi; Clement A Adebamowo; Ike Ajayi; Toyin Aniagwu; Patricia A Marshall; Chibuzor Nkwodimmah; Charmaine D M Royal; Mark F Leppert; Missy Dixon; Andy Peiffer; Renzong Qiu; Alastair Kent; Kazuto Kato; Norio Niikawa; Isaac F Adewole; Bartha M Knoppers; Morris W Foster; Ellen Wright Clayton; Jessica Watkin; Richard A Gibbs; John W Belmont; Donna Muzny; Lynne Nazareth; Erica Sodergren; George M Weinstock; David A Wheeler; Imtaz Yakub; Stacey B Gabriel; Robert C Onofrio; Daniel J Richter; Liuda Ziaugra; Bruce W Birren; Mark J Daly; David Altshuler; Richard K Wilson; Lucinda L Fulton; Jane Rogers; John Burton; Nigel P Carter; Christopher M Clee; Mark Griffiths; Matthew C Jones; Kirsten McLay; Robert W Plumb; Mark T Ross; Sarah K Sims; David L Willey; Zhu Chen; Hua Han; Le Kang; Martin Godbout; John C Wallenburg; Paul L'Archevêque; Guy Bellemare; Koji Saeki; Hongguang Wang; Daochang An; Hongbo Fu; Qing Li; Zhen Wang; Renwu Wang; Arthur L Holden; Lisa D Brooks; Jean E McEwen; Mark S Guyer; Vivian Ota Wang; Jane L Peterson; Michael Shi; Jack Spiegel; Lawrence M Sung; Lynn F Zacharia; Francis S Collins; Karen Kennedy; Ruth Jamieson; John Stewart
Journal:  Nature       Date:  2007-10-18       Impact factor: 49.962

6.  The African Genome Variation Project shapes medical genetics in Africa.

Authors:  Deepti Gurdasani; Tommy Carstensen; Fasil Tekola-Ayele; Luca Pagani; Ioanna Tachmazidou; Konstantinos Hatzikotoulas; Savita Karthikeyan; Louise Iles; Martin O Pollard; Ananyo Choudhury; Graham R S Ritchie; Yali Xue; Jennifer Asimit; Rebecca N Nsubuga; Elizabeth H Young; Cristina Pomilla; Katja Kivinen; Kirk Rockett; Anatoli Kamali; Ayo P Doumatey; Gershim Asiki; Janet Seeley; Fatoumatta Sisay-Joof; Muminatou Jallow; Stephen Tollman; Ephrem Mekonnen; Rosemary Ekong; Tamiru Oljira; Neil Bradman; Kalifa Bojang; Michele Ramsay; Adebowale Adeyemo; Endashaw Bekele; Ayesha Motala; Shane A Norris; Fraser Pirie; Pontiano Kaleebu; Dominic Kwiatkowski; Chris Tyler-Smith; Charles Rotimi; Eleftheria Zeggini; Manjinder S Sandhu
Journal:  Nature       Date:  2014-12-03       Impact factor: 49.962

7.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

8.  Haplotype estimation for biobank-scale data sets.

Authors:  Jared O'Connell; Kevin Sharp; Nick Shrine; Louise Wain; Ian Hall; Martin Tobin; Jean-Francois Zagury; Olivier Delaneau; Jonathan Marchini
Journal:  Nat Genet       Date:  2016-06-06       Impact factor: 38.330

9.  A genome-wide association study identifies protein quantitative trait loci (pQTLs).

Authors:  David Melzer; John R B Perry; Dena Hernandez; Anna-Maria Corsi; Kara Stevens; Ian Rafferty; Fulvio Lauretani; Anna Murray; J Raphael Gibbs; Giuseppe Paolisso; Sajjad Rafiq; Javier Simon-Sanchez; Hana Lango; Sonja Scholz; Michael N Weedon; Sampath Arepalli; Neil Rice; Nicole Washecka; Alison Hurst; Angela Britton; William Henley; Joyce van de Leemput; Rongling Li; Anne B Newman; Greg Tranah; Tamara Harris; Vijay Panicker; Colin Dayan; Amanda Bennett; Mark I McCarthy; Aimo Ruokonen; Marjo-Riitta Jarvelin; Jack Guralnik; Stefania Bandinelli; Timothy M Frayling; Andrew Singleton; Luigi Ferrucci
Journal:  PLoS Genet       Date:  2008-05-09       Impact factor: 5.917

10.  Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Authors:  Carlo Sidore; Fabio Busonero; Andrea Maschio; Eleonora Porcu; Silvia Naitza; Magdalena Zoledziewska; Antonella Mulas; Giorgio Pistis; Maristella Steri; Fabrice Danjou; Alan Kwong; Vicente Diego Ortega Del Vecchyo; Charleston W K Chiang; Jennifer Bragg-Gresham; Maristella Pitzalis; Ramaiah Nagaraja; Brendan Tarrier; Christine Brennan; Sergio Uzzau; Christian Fuchsberger; Rossano Atzeni; Frederic Reinier; Riccardo Berutti; Jie Huang; Nicholas J Timpson; Daniela Toniolo; Paolo Gasparini; Giovanni Malerba; George Dedoussis; Eleftheria Zeggini; Nicole Soranzo; Chris Jones; Robert Lyons; Andrea Angius; Hyun M Kang; John Novembre; Serena Sanna; David Schlessinger; Francesco Cucca; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2015-09-14       Impact factor: 38.330

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Authors:  Daniel W Belsky; Avshalom Caspi; Louise Arseneault; David L Corcoran; Benjamin W Domingue; Kathleen Mullan Harris; Renate M Houts; Jonathan S Mill; Terrie E Moffitt; Joseph Prinz; Karen Sugden; Jasmin Wertz; Benjamin Williams; Candice L Odgers
Journal:  Nat Hum Behav       Date:  2019-04-08

2.  Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.

Authors:  N Amin; O Jovanova; H H H Adams; A Dehghan; M Kavousi; M W Vernooij; R P Peeters; F M S de Vrij; S J van der Lee; J G J van Rooij; E M van Leeuwen; L Chaker; A Demirkan; A Hofman; R W W Brouwer; R Kraaij; K Willems van Dijk; T Hankemeier; W F J van Ijcken; A G Uitterlinden; W J Niessen; O H Franco; S A Kushner; M A Ikram; H Tiemeier; C M van Duijn
Journal:  Mol Psychiatry       Date:  2016-07-19       Impact factor: 15.992

3.  Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.

Authors:  Lynsey S Hall; Mark J Adams; Aleix Arnau-Soler; Toni-Kim Clarke; David M Howard; Yanni Zeng; Gail Davies; Saskia P Hagenaars; Ana Maria Fernandez-Pujals; Jude Gibson; Eleanor M Wigmore; Thibaud S Boutin; Caroline Hayward; Generation Scotland; David J Porteous; Ian J Deary; Pippa A Thomson; Chris S Haley; Andrew M McIntosh
Journal:  Transl Psychiatry       Date:  2018-01-10       Impact factor: 6.222

4.  Genome-Wide Association Study of Susceptibility Loci for T-Cell Acute Lymphoblastic Leukemia in Children.

Authors:  Maoxiang Qian; Xujie Zhao; Meenakshi Devidas; Wenjian Yang; Yoshihiro Gocho; Colton Smith; Julie M Gastier-Foster; Yizhen Li; Heng Xu; Shouyue Zhang; Sima Jeha; Xiaowen Zhai; Takaomi Sanda; Stuart S Winter; Kimberly P Dunsmore; Elizabeth A Raetz; William L Carroll; Naomi J Winick; Karen R Rabin; Patrick A Zweidler-Mckay; Brent Wood; Ching-Hon Pui; William E Evans; Stephen P Hunger; Charles G Mullighan; Mary V Relling; Mignon L Loh; Jun J Yang
Journal:  J Natl Cancer Inst       Date:  2019-12-01       Impact factor: 13.506

5.  Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels.

Authors:  Wei Zhou; Lars G Fritsche; Sayantan Das; He Zhang; Jonas B Nielsen; Oddgeir L Holmen; Jin Chen; Maoxuan Lin; Maiken B Elvestad; Kristian Hveem; Goncalo R Abecasis; Hyun Min Kang; Cristen J Willer
Journal:  Genet Epidemiol       Date:  2017-09-01       Impact factor: 2.135

6.  Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Authors:  Cornelis Blauwendraat; Demis A Kia; Lasse Pihlstrøm; Ziv Gan-Or; Suzanne Lesage; J Raphael Gibbs; Jinhui Ding; Roy N Alcalay; Sharon Hassin-Baer; Alan M Pittman; Janet Brooks; Connor Edsall; Sun Ju Chung; Stefano Goldwurm; Mathias Toft; Claudia Schulte; Dena Hernandez; Andrew B Singleton; Mike A Nalls; Alexis Brice; Sonja W Scholz; Nicholas W Wood
Journal:  Neurobiol Aging       Date:  2017-12-20       Impact factor: 4.673

7.  Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.

Authors:  Eleanor C Semmes; Jayaram Vijayakrishnan; Chenan Zhang; Jillian H Hurst; Richard S Houlston; Kyle M Walsh
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2020-05-28       Impact factor: 4.254

8.  Next-generation genotype imputation service and methods.

Authors:  Sayantan Das; Lukas Forer; Sebastian Schönherr; Carlo Sidore; Adam E Locke; Alan Kwong; Scott I Vrieze; Emily Y Chew; Shawn Levy; Matt McGue; David Schlessinger; Dwight Stambolian; Po-Ru Loh; William G Iacono; Anand Swaroop; Laura J Scott; Francesco Cucca; Florian Kronenberg; Michael Boehnke; Gonçalo R Abecasis; Christian Fuchsberger
Journal:  Nat Genet       Date:  2016-08-29       Impact factor: 38.330

9.  Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

Authors:  Hanna Debiec; Claire Dossier; Eric Letouzé; Christopher E Gillies; Marina Vivarelli; Rosemary K Putler; Elisabet Ars; Evelyne Jacqz-Aigrain; Valery Elie; Manuela Colucci; Stéphanie Debette; Philippe Amouyel; Siham C Elalaoui; Abdelaziz Sefiani; Valérie Dubois; Tabassome Simon; Matthias Kretzler; Jose Ballarin; Francesco Emma; Matthew G Sampson; Georges Deschênes; Pierre Ronco
Journal:  J Am Soc Nephrol       Date:  2018-06-14       Impact factor: 10.121

10.  A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.

Authors:  Lasse Pihlstrøm; Cornelis Blauwendraat; Chiara Cappelletti; Victoria Berge-Seidl; Margrete Langmyhr; Sandra Pilar Henriksen; Wilma D J van de Berg; J Raphael Gibbs; Mark R Cookson; Andrew B Singleton; Mike A Nalls; Mathias Toft
Journal:  Ann Neurol       Date:  2018-08-26       Impact factor: 10.422

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