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Tier 3 — Observational / field trialPeer-reviewed

A reference panel of 64,976 haplotypes for genotype imputation

Richard Durbin, Klaudia Walter, Yang Luo, Shane McCarthy, Nicole Soranzo, Jeffrey C. Barrett, Eleftheria Zeggini, Arthur Gilly, Carl A. Anderson,  Laura J Scott, Sayantan Das,  Gonçalo Abecasis, Hyun Min Kang, Sai Chen,  Christian Fuchsberger, Michael Boehnke,  Alan Kwong,  Laura J Scott, Sayantan Das,  Gonçalo Abecasis, Hyun Min Kang, Sai Chen,  Christian Fuchsberger, Michael Boehnke,  Alan Kwong, Anubha Mahajan, Warren W. Kretzschmar,  Mark I McCarthy ,  Jonathan Marchini, Olivier Delaneau, Andrew R. Wood, Marcus A. Tuke, Timothy M. Frayling, Alexander Teumer, Matthias Nauck, Alexander Teumer, Petr Danecek, Kevin Sharp,  Jonathan Marchini, Andrea Angius, Fabio Busonero, Francesco Cucca, Carlo Sidore, Josine L. Min, Nicholas J. Timpson, George Davey Smith, Laura J. Corbin, Seppo Koskinen, Veikko Salomaa, Scott Vrieze, Scott Vrieze, Cristen J. Willer, He Zhang, Jan H. Veldink, Wouter van Rheenen, Leonard H. van den Berg, Annelot M. Dekker, Tabitha A. Harrison, Charles Kooperberg, Ulrike Peters, Ulrike Peters, Michele T. Pato, Carlos N. Pato, Cornelia M. van Duijn, Matthew G. Sampson, Christopher E. Gillies, Nicola Pirastu, Ilaria Gandin, Massimiliano Cocca, Paolo Gasparini, Massimo Mezzavilla, Massimo Mezzavilla, Paolo Gasparini, Daniela Toniolo, Michela Traglia, Cinzia Sala, Dorrett Boomsma, Kari Branham, Gerome Breen, Gerome Breen, Chad M. Brummett, Ross M. Fraser, James F. Wilson, Harry Campbell, Andrew T. Chan, Andrew T. Chan, Cristen J. Willer, Matthias Kretzler, Sai Chen, Cristen J. Willer, Matthias Kretzler, Sai Chen, Emily Y. Chew, Francis S. Collins, George Dedoussis, Aliki‐Eleni Farmaki, Marcus Dörr, Matthias Nauck, Uwe Völker, Marcus Dörr

Nature Genetics · 2016

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Summary

This paper describes the construction and characterisation of a large reference panel of 64,976 haplotypes, as suggested by the title and 2016 publication in Nature Genetics. The resource is designed to improve genotype imputation—the computational inference of unobserved genetic variants—in genome-wide association studies. Whilst not directly focused on agricultural or nutritional outcomes, such genomic tools underpin population-scale research linking genetic variation to crop traits, livestock performance, and human nutrient metabolism.

UK applicability

As a genomic infrastructure paper, this reference panel is applicable globally and has utility in UK-based genetic epidemiology and agricultural genomics research. The panel's composition and performance across ancestral groups may influence the applicability of imputation-based association studies conducted in UK cohorts.

Key measures

Haplotype frequency, imputation accuracy, variant discovery across population subgroups

Outcomes reported

Development and validation of a large-scale haplotype reference panel comprising 64,976 haplotypes for use in genome-wide association studies and genomic imputation. The panel enables improved accuracy in inferring unobserved genetic variants across diverse populations.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Research
Study design
Genomic resource development and validation
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1038/ng.3643
Catalogue ID
BFmovbmir0-2h2ian

Topic tags

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