Literature DB >> 27571263

Next-generation genotype imputation service and methods.

Sayantan Das1, Lukas Forer2, Sebastian Schönherr2, Carlo Sidore1,3,4, Adam E Locke1, Alan Kwong1, Scott I Vrieze5, Emily Y Chew6, Shawn Levy7, Matt McGue8, David Schlessinger9, Dwight Stambolian10, Po-Ru Loh11,12, William G Iacono8, Anand Swaroop13, Laura J Scott1, Francesco Cucca3,4, Florian Kronenberg2, Michael Boehnke1, Gonçalo R Abecasis1, Christian Fuchsberger1,2,14.   

Abstract

Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.

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Mesh:

Year:  2016        PMID: 27571263      PMCID: PMC5157836          DOI: 10.1038/ng.3656

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


  34 in total

1.  A linear complexity phasing method for thousands of genomes.

Authors:  Olivier Delaneau; Jonathan Marchini; Jean-François Zagury
Journal:  Nat Methods       Date:  2011-12-04       Impact factor: 28.547

2.  Large-scale whole-genome sequencing of the Icelandic population.

Authors:  Daniel F Gudbjartsson; Hannes Helgason; Sigurjon A Gudjonsson; Florian Zink; Asmundur Oddson; Arnaldur Gylfason; Soren Besenbacher; Gisli Magnusson; Bjarni V Halldorsson; Eirikur Hjartarson; Gunnar Th Sigurdsson; Simon N Stacey; Michael L Frigge; Hilma Holm; Jona Saemundsdottir; Hafdis Th Helgadottir; Hrefna Johannsdottir; Gunnlaugur Sigfusson; Gudmundur Thorgeirsson; Jon Th Sverrisson; Solveig Gretarsdottir; G Bragi Walters; Thorunn Rafnar; Bjarni Thjodleifsson; Einar S Bjornsson; Sigurdur Olafsson; Hildur Thorarinsdottir; Thora Steingrimsdottir; Thora S Gudmundsdottir; Asgeir Theodors; Jon G Jonasson; Asgeir Sigurdsson; Gyda Bjornsdottir; Jon J Jonsson; Olafur Thorarensen; Petur Ludvigsson; Hakon Gudbjartsson; Gudmundur I Eyjolfsson; Olof Sigurdardottir; Isleifur Olafsson; David O Arnar; Olafur Th Magnusson; Augustine Kong; Gisli Masson; Unnur Thorsteinsdottir; Agnar Helgason; Patrick Sulem; Kari Stefansson
Journal:  Nat Genet       Date:  2015-03-25       Impact factor: 38.330

3.  Phasing of many thousands of genotyped samples.

Authors:  Amy L Williams; Nick Patterson; Joseph Glessner; Hakon Hakonarson; David Reich
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

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

Review 5.  Linkage disequilibrium in humans: models and data.

Authors:  J K Pritchard; M Przeworski
Journal:  Am J Hum Genet       Date:  2001-06-14       Impact factor: 11.025

6.  A systematic survey of loss-of-function variants in human protein-coding genes.

Authors:  Daniel G MacArthur; Suganthi Balasubramanian; Adam Frankish; Ni Huang; James Morris; Klaudia Walter; Luke Jostins; Lukas Habegger; Joseph K Pickrell; Stephen B Montgomery; 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; Jeffrey A Rosenfeld; Menachem Fromer; Mike Jin; Xinmeng Jasmine Mu; Ekta Khurana; Kai Ye; Mike Kay; Gary Ian Saunders; Marie-Marthe Suner; Toby Hunt; If H A Barnes; Clara Amid; Denise R Carvalho-Silva; Alexandra H Bignell; Catherine Snow; Bryndis Yngvadottir; Suzannah Bumpstead; David N Cooper; Yali Xue; Irene Gallego Romero; Jun Wang; Yingrui Li; Richard A Gibbs; Steven A McCarroll; Emmanouil T Dermitzakis; Jonathan K Pritchard; Jeffrey C Barrett; Jennifer Harrow; Matthew E Hurles; Mark B Gerstein; Chris Tyler-Smith
Journal:  Science       Date:  2012-02-17       Impact factor: 47.728

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.  Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Authors:  Nathan O Stitziel; Hong-Hee Won; Alanna C Morrison; Gina M Peloso; Ron Do; Leslie A Lange; Pierre Fontanillas; Namrata Gupta; Stefano Duga; Anuj Goel; Martin Farrall; Danish Saleheen; Paola Ferrario; Inke König; Rosanna Asselta; Piera A Merlini; Nicola Marziliano; Maria Francesca Notarangelo; Ursula Schick; Paul Auer; Themistocles L Assimes; Muredach Reilly; Robert Wilensky; Daniel J Rader; G Kees Hovingh; Thomas Meitinger; Thorsten Kessler; Adnan Kastrati; Karl-Ludwig Laugwitz; David Siscovick; Jerome I Rotter; Stanely L Hazen; Russell Tracy; Sharon Cresci; John Spertus; Rebecca Jackson; Stephen M Schwartz; Pradeep Natarajan; Jacy Crosby; Donna Muzny; Christie Ballantyne; Stephen S Rich; Christopher J O'Donnell; Goncalo Abecasis; Shamil Sunaev; Deborah A Nickerson; Julie E Buring; Paul M Ridker; Daniel I Chasman; Erin Austin; Iftikhar J Kullo; Peter E Weeke; Christian M Shaffer; Lisa A Bastarache; Joshua C Denny; Dan M Roden; Colin Palmer; Panos Deloukas; Dan-Yu Lin; Zheng-zheng Tang; Jeanette Erdmann; Heribert Schunkert; John Danesh; Jaume Marrugat; Roberto Elosua; Diego Ardissino; Ruth McPherson; Hugh Watkins; Alex P Reiner; James G Wilson; David Altshuler; Richard A Gibbs; Eric S Lander; Eric Boerwinkle; Stacey Gabriel; Sekar Kathiresan
Journal:  N Engl J Med       Date:  2014-11-12       Impact factor: 91.245

9.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

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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1.  Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.

Authors:  Quinn T Ostrom; Kathleen M Egan; L Burt Nabors; Travis Gerke; Reid C Thompson; Jeffrey J Olson; Renato LaRocca; Sajeel Chowdhary; Jeanette E Eckel-Passow; Georgina Armstrong; John K Wiencke; Jonine L Bernstein; Elizabeth B Claus; Dora Il'yasova; Christoffer Johansen; Daniel H Lachance; Rose K Lai; Ryan T Merrell; Sara H Olson; Siegal Sadetzki; Joellen M Schildkraut; Sanjay Shete; Richard S Houlston; Robert B Jenkins; Margaret R Wrensch; Beatrice Melin; Christopher I Amos; Jason T Huse; Jill S Barnholtz-Sloan; Melissa L Bondy
Journal:  Int J Cancer       Date:  2019-04-22       Impact factor: 7.396

2.  Genome-Wide Gene-Potassium Interaction Analyses on Blood Pressure: The GenSalt Study (Genetic Epidemiology Network of Salt Sensitivity).

Authors:  Changwei Li; Jiang He; Jing Chen; Jinying Zhao; Dongfeng Gu; James E Hixson; Dabeeru C Rao; Cashell E Jaquish; Treva K Rice; Yun Ju Sung; Tanika N Kelly
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3.  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

4.  Heterogeneity in effects of genetically determined adiposity on insulin resistance and type 2 diabetes: The atherosclerosis risk in communities study.

Authors:  Tingting Liu; Changwei Li; Luqi Shen; Ye Shen; Weibo Mao; Shengxu Li
Journal:  J Diabetes Complications       Date:  2018-01-03       Impact factor: 2.852

5.  Association of Klotho-VS Heterozygosity With Risk of Alzheimer Disease in Individuals Who Carry APOE4.

Authors:  Michael E Belloy; Valerio Napolioni; Summer S Han; Yann Le Guen; Michael D Greicius
Journal:  JAMA Neurol       Date:  2020-07-01       Impact factor: 18.302

6.  Examining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study.

Authors:  Sinan Guloksuz; Lotta-Katrin Pries; Philippe Delespaul; Gunter Kenis; Jurjen J Luykx; Bochao D Lin; Alexander L Richards; Berna Akdede; Tolga Binbay; Vesile Altınyazar; Berna Yalınçetin; Güvem Gümüş-Akay; Burçin Cihan; Haldun Soygür; Halis Ulaş; EylemŞahin Cankurtaran; Semra Ulusoy Kaymak; Marina M Mihaljevic; Sanja Andric Petrovic; Tijana Mirjanic; Miguel Bernardo; Bibiana Cabrera; Julio Bobes; Pilar A Saiz; María Paz García-Portilla; Julio Sanjuan; Eduardo J Aguilar; José Luis Santos; Estela Jiménez-López; Manuel Arrojo; Angel Carracedo; Gonzalo López; Javier González-Peñas; Mara Parellada; Nadja P Maric; Cem Atbaşog Lu; Alp Ucok; Köksal Alptekin; Meram Can Saka; Celso Arango; Michael O'Donovan; Bart P F Rutten; Jim van Os
Journal:  World Psychiatry       Date:  2019-06       Impact factor: 49.548

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.  Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer.

Authors:  Kathryn J Ruddy; Daniel J Schaid; Ann H Partridge; Nicholas B Larson; Anthony Batzler; Lothar Häberle; Ralf Dittrich; Peter Widschwendter; Visnja Fink; Emanuel Bauer; Judith Schwitulla; Matthias Rübner; Arif B Ekici; Viktoria Aivazova-Fuchs; Elizabeth A Stewart; Matthias W Beckmann; Elizabeth Ginsburg; Liewei Wang; Richard M Weinshilboum; Fergus J Couch; Wolfgang Janni; Brigitte Rack; Celine Vachon; Peter A Fasching
Journal:  Fertil Steril       Date:  2019-07-29       Impact factor: 7.329

9.  Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women.

Authors:  Katie M Marker; Valentina A Zavala; Tatiana Vidaurre; Paul C Lott; Jeannie Navarro Vásquez; Sandro Casavilca-Zambrano; Mónica Calderón; Julio E Abugattas; Henry L Gómez; Hugo A Fuentes; Ruddy Liendo Picoaga; Jose M Cotrina; Silvia P Neciosup; Carlos A Castañeda; Zaida Morante; Fernando Valencia; Javier Torres; Magdalena Echeverry; Mabel E Bohórquez; Guadalupe Polanco-Echeverry; Ana P Estrada-Florez; Silvia J Serrano-Gómez; Jenny A Carmona-Valencia; Isabel Alvarado-Cabrero; María Carolina Sanabria-Salas; Alejandro Velez; Jorge Donado; Sikai Song; Daniel Cherry; Lizeth I Tamayo; Scott Huntsman; Donglei Hu; Roberto Ruiz-Cordero; Ronald Balassanian; Elad Ziv; Jovanny Zabaleta; Luis Carvajal-Carmona; Laura Fejerman
Journal:  Cancer Res       Date:  2020-04-03       Impact factor: 12.701

10.  Use of whole-genome sequence data and novel genomic selection strategies to improve selection for age at puberty in tropically-adapted beef heifers.

Authors:  Christie L Warburton; Bailey N Engle; Elizabeth M Ross; Roy Costilla; Stephen S Moore; Nicholas J Corbet; Jack M Allen; Alan R Laing; Geoffry Fordyce; Russell E Lyons; Michael R McGowan; Brian M Burns; Ben J Hayes
Journal:  Genet Sel Evol       Date:  2020-05-27       Impact factor: 4.297

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