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Article

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Nature communications - 14 Sept 2015

Huang Jie, Howie Bryan, McCarthy Shane, Memari Yasin, Walter Klaudia, Min Josine L, Danecek Petr, Malerba Giovanni, Trabetti Elisabetta, Zheng Hou-Feng, Gambaro Giovanni, Richards J Brent, Durbin Richard, Timpson Nicholas J, Marchini Jonathan, Soranzo Nicole

Abstract excerpt

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the...

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Identifiers

PMID: 26368830
DOI: 10.1038/ncomms9111
PMCID: PMC4579394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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