Pulse Brain · Growing Health Evidence Index
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

Read source ↗ All evidence

Summary

This 2016 publication in Nature Genetics describes the construction and validation of a large reference haplotype panel containing 64,976 haplotypes, intended to facilitate accurate genotype imputation in genetic studies. As suggested by the title and journal, the panel represents a foundational resource for genome-wide association and population genetics research, likely incorporating data from multiple population cohorts to ensure broad applicability. The work does not directly address agricultural, nutritional, or soil health outcomes.

UK applicability

This paper is not directly applicable to UK farming systems, soil health, nutrient density or human nutrition research. Its relevance to Pulse Brain is marginal: it may underpin genomic studies of crop or livestock genetics, but only as a methodological tool rather than a primary research contribution to food systems.

Key measures

Haplotype panel size; genotype imputation accuracy; allele frequency estimation; cross-population applicability

Outcomes reported

The study presents a large reference panel of 64,976 haplotypes derived from whole-genome sequencing data, designed to enable accurate genotype imputation across diverse populations. The panel's utility for imputation accuracy and its applications in genome-wide association studies is demonstrated across multiple cohorts.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
Study type
Research
Study design
Methodology paper / Reference resource
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1038/ng.3643
Catalogue ID
BFmovi24gk-7x0f98

Topic tags

Pulse AI · ask about this record

Dig deeper with Pulse AI.

Pulse AI has read the whole catalogue. Ask about this record, its theme, or how the findings apply to UK farming and policy — every answer cites the underlying studies.