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 Nature Genetics paper presents a large-scale haplotype reference panel comprising 64,976 phased haplotypes, as suggested by the title and journal context. The resource was developed to improve the accuracy and efficiency of genotype imputation in genome-wide association studies (GWAS). Such reference panels are foundational tools in population genetics research, though this particular work sits outside the core farming systems and food/nutrition domains that Vitagri's Pulse Brain prioritises.

UK applicability

This is a methodological genetics resource with potential indirect relevance to UK agricultural genomics research (e.g., crop and livestock breeding programmes) but no direct application to soil health, farming systems or human nutrition outcomes.

Key measures

Haplotype panel size (n=64,976), genotype imputation accuracy, genome coverage

Outcomes reported

The study describes development and validation of a large reference panel of 64,976 haplotypes for use in genotype imputation across genome-wide association studies. The panel enables improved accuracy of genetic variant calling in research populations.

Theme
Measurement & metrics
Subject
Other / interdisciplinary
Study type
Research
Study design
Methodology paper / Resource development
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1038/ng.3643
Catalogue ID
BFmor3gaas-ctriv9

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.