Literature DB >> 25338720

minimac2: faster genotype imputation.

Christian Fuchsberger1, Gonçalo R Abecasis1, David A Hinds1.   

Abstract

UNLABELLED: Genotype imputation is a key step in the analysis of genome-wide association studies. Upcoming very large reference panels, such as those from The 1000 Genomes Project and the Haplotype Consortium, will improve imputation quality of rare and less common variants, but will also increase the computational burden. Here, we demonstrate how the application of software engineering techniques can help to keep imputation broadly accessible. Overall, these improvements speed up imputation by an order of magnitude compared with our previous implementation.
AVAILABILITY AND IMPLEMENTATION: minimac2, including source code, documentation, and examples is available at http://genome.sph.umich.edu/wiki/Minimac2
© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Mesh:

Year:  2014        PMID: 25338720      PMCID: PMC4341061          DOI: 10.1093/bioinformatics/btu704

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  13 in total

1.  A new multipoint method for genome-wide association studies by imputation of genotypes.

Authors:  Jonathan Marchini; Bryan Howie; Simon Myers; Gil McVean; Peter Donnelly
Journal:  Nat Genet       Date:  2007-06-17       Impact factor: 38.330

2.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

3.  A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals.

Authors:  Brian L Browning; Sharon R Browning
Journal:  Am J Hum Genet       Date:  2009-02-05       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

5.  Faster sequential genetic linkage computations.

Authors:  R W Cottingham; R M Idury; A A Schäffer
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 6.  Genotype imputation.

Authors:  Yun Li; Cristen Willer; Serena Sanna; Gonçalo Abecasis
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

7.  Fast and accurate genotype imputation in genome-wide association studies through pre-phasing.

Authors:  Bryan Howie; Christian Fuchsberger; Matthew Stephens; Jonathan Marchini; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2012-07-22       Impact factor: 38.330

8.  Possible ancestral structure in human populations.

Authors:  Vincent Plagnol; Jeffrey D Wall
Journal:  PLoS Genet       Date:  2006-07       Impact factor: 5.917

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.  Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.

Authors:  Alanna C Morrison; Arend Voorman; Andrew D Johnson; Xiaoming Liu; Jin Yu; Alexander Li; Donna Muzny; Fuli Yu; Kenneth Rice; Chengsong Zhu; Joshua Bis; Gerardo Heiss; Christopher J O'Donnell; Bruce M Psaty; L Adrienne Cupples; Richard Gibbs; Eric Boerwinkle
Journal:  Nat Genet       Date:  2013-06-16       Impact factor: 38.330

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  221 in total

1.  Imputing Genotypes in Biallelic Populations from Low-Coverage Sequence Data.

Authors:  Christopher A Fragoso; Christopher Heffelfinger; Hongyu Zhao; Stephen L Dellaporta
Journal:  Genetics       Date:  2015-12-29       Impact factor: 4.562

2.  Genotype Imputation with Millions of Reference Samples.

Authors:  Brian L Browning; Sharon R Browning
Journal:  Am J Hum Genet       Date:  2016-01-07       Impact factor: 11.025

3.  Securing the use of existing sample collections for future human genetic research.

Authors:  George Kanoungi; Peter Nürnberg; Michael Nothnagel
Journal:  Eur J Hum Genet       Date:  2017-02-01       Impact factor: 4.246

4.  Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.

Authors:  Mi-Ryung Han; Jirong Long; Ji-Yeob Choi; Siew-Kee Low; Sun-Seog Kweon; Ying Zheng; Qiuyin Cai; Jiajun Shi; Xingyi Guo; Keitaro Matsuo; Motoki Iwasaki; Chen-Yang Shen; Mi Kyung Kim; Wanqing Wen; Bingshan Li; Atsushi Takahashi; Min-Ho Shin; Yong-Bing Xiang; Hidemi Ito; Yoshio Kasuga; Dong-Young Noh; Koichi Matsuda; Min Ho Park; Yu-Tang Gao; Hiroji Iwata; Shoichiro Tsugane; Sue K Park; Michiaki Kubo; Xiao-Ou Shu; Daehee Kang; Wei Zheng
Journal:  Hum Mol Genet       Date:  2016-06-27       Impact factor: 6.150

5.  A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.

Authors:  Ina Kycia; Brooke N Wolford; Jeroen R Huyghe; Christian Fuchsberger; Swarooparani Vadlamudi; Romy Kursawe; Ryan P Welch; Ricardo d'Oliveira Albanus; Asli Uyar; Shubham Khetan; Nathan Lawlor; Mohan Bolisetty; Anubhuti Mathur; Johanna Kuusisto; Markku Laakso; Duygu Ucar; Karen L Mohlke; Michael Boehnke; Francis S Collins; Stephen C J Parker; Michael L Stitzel
Journal:  Am J Hum Genet       Date:  2018-04-05       Impact factor: 11.025

6.  Genetic regulatory signatures underlying islet gene expression and type 2 diabetes.

Authors:  Arushi Varshney; Laura J Scott; Ryan P Welch; Michael R Erdos; Peter S Chines; Narisu Narisu; Ricardo D'O Albanus; Peter Orchard; Brooke N Wolford; Romy Kursawe; Swarooparani Vadlamudi; Maren E Cannon; John P Didion; John Hensley; Anthony Kirilusha; Lori L Bonnycastle; D Leland Taylor; Richard Watanabe; Karen L Mohlke; Michael Boehnke; Francis S Collins; Stephen C J Parker; Michael L Stitzel
Journal:  Proc Natl Acad Sci U S A       Date:  2017-02-13       Impact factor: 11.205

7.  Genome-wide association study of breakfast skipping links clock regulation with food timing.

Authors:  Hassan S Dashti; Jordi Merino; Jacqueline M Lane; Yanwei Song; Caren E Smith; Toshiko Tanaka; Nicola M McKeown; Chandler Tucker; Dianjianyi Sun; Traci M Bartz; Ruifang Li-Gao; Hoirun Nisa; Sirimon Reutrakul; Rozenn N Lemaitre; Tahani M Alshehri; Renée de Mutsert; Lydia Bazzano; Lu Qi; Kristen L Knutson; Bruce M Psaty; Dennis O Mook-Kanamori; Vesna Boraska Perica; Marian L Neuhouser; Frank A J L Scheer; Martin K Rutter; Marta Garaulet; Richa Saxena
Journal:  Am J Clin Nutr       Date:  2019-08-01       Impact factor: 7.045

8.  Kinpute: using identity by descent to improve genotype imputation.

Authors:  Mark Abney; Aisha ElSherbiny
Journal:  Bioinformatics       Date:  2019-11-01       Impact factor: 6.937

9.  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

10.  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

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