Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
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Author / Creator
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 and UK10K Consortium
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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...
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Full title
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4579394
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4579394
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms9111