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Article

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

Bioinformatics (Oxford, England) - 1 Jun 2016

Narasimhan Vagheesh, Danecek Petr, Scally Aylwyn, Xue Yali, Tyler-Smith Chris, Durbin Richard

Abstract excerpt

UNLABELLED: 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 tools to detect RoH used genotype array data, but substantially more information is available from sequencing data....

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PMID: 26826718
DOI: 10.1093/bioinformatics/btw044
PMCID: PMC4892413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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