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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 2016 Nature Genetics publication describes the development and validation of a large-scale haplotype reference panel containing 64,976 haplotypes, created through international collaboration to enhance genotype imputation in genomic research. The panel was designed to improve the statistical power and accuracy of genome-wide association studies by enabling reliable inference of unobserved genetic variants. Whilst primarily a genomic methodological resource, such reference panels support downstream studies linking genetic variation to phenotypes including nutrient metabolism, dietary response, and agricultural trait inheritance.

UK applicability

As a reference resource for genomic imputation, this panel has utility for UK-based genetic epidemiology research and agricultural genomics studies. UK researchers utilising genome-wide association approaches for investigating diet-gene interactions or crop trait genetics would benefit from access to this standardised haplotype reference.

Key measures

Haplotype panel size (64,976 haplotypes); genotype imputation accuracy; coverage of genetic variants across populations

Outcomes reported

The study presents a large-scale haplotype reference panel comprising 64,976 haplotypes developed to enable genotype imputation in genome-wide association studies. The panel serves as a methodological resource to improve inference of unobserved genetic variants across diverse populations.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Research
Study design
Methodological resource development
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1038/ng.3643
Catalogue ID
BFmowc2by2-uo1wxf

Topic tags

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