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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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Détails bibliographiques
Publié dans:Bioinformatics
Auteurs principaux: Narasimhan, Vagheesh, Danecek, Petr, Scally, Aylwyn, Xue, Yali, Tyler-Smith, Chris, Durbin, Richard
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
Sujets:
Accès en ligne: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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