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Phasing for medical sequencing using rare variants and large haplotype reference panels

Motivation: There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datasets consisting of tens and hundreds of thousands of high-coverage sequenced samples will soon be availabl...

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Bibliographic Details
Published in:Bioinformatics
Main Authors: Sharp, Kevin, Kretzschmar, Warren, Delaneau, Olivier, Marchini, Jonathan
Format: Artigo
Language:Inglês
Published: Oxford University Press 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4920110/
https://ncbi.nlm.nih.gov/pubmed/27153703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btw065
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