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Article

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

Bioinformatics (Oxford, England) - 15 Oct 2014

Magi Alberto, Tattini Lorenzo, Palombo Flavia, Benelli Matteo, Gialluisi Alessandro, Giusti Betti, Abbate Rosanna, Seri Marco, Gensini Gian Franco, Romeo Giovanni, Pippucci Tommaso

Abstract excerpt

MOTIVATION: Runs of homozygosity (ROH) are sizable chromosomal stretches of homozygous genotypes, ranging in length from tens of kilobases to megabases. ROHs can be relevant for population and medical genetics, playing a role in predisposition to both rare and common disorders. ROHs are commonly detected by single nucleotide polymorphism (SNP) microarrays, but attempts have been made to use whole-exome sequencing...

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PMID: 24966365
DOI: 10.1093/bioinformatics/btu401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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