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BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

Summary: Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are likely to denote autozygosity, whereby both copies of the genome descend from the same recent ancestor. Early tool...

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Bibliographic Details
Published in:Bioinformatics
Main Authors: Narasimhan, Vagheesh, Danecek, Petr, Scally, Aylwyn, Xue, Yali, Tyler-Smith, Chris, Durbin, Richard
Format: Artigo
Language:Inglês
Published: Oxford University Press 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4892413/
https://ncbi.nlm.nih.gov/pubmed/26826718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btw044
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