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Article

Haplotype reference consortium panel: Practical implications of imputations with large reference panels.

Human mutation - 1 Aug 2017

Iglesias Adriana I, van der Lee Sven J, Bonnemaijer Pieter W M, Höhn René, Nag Abhishek, Gharahkhani Puya, Khawaja Anthony P, Broer Linda, Foster Paul J, Hammond Christopher J, Hysi Pirro G, van Leeuwen Elisabeth M, MacGregor Stuart, Mackey David A, Mazur Johanna, Nickels Stefan, Uitterlinden André G, Klaver Caroline C W, Amin Najaf, van Duijn Cornelia M

Abstract excerpt

Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28493391
DOI: 10.1002/humu.23247

Genes

HRC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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