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Elsevier, Journal of Biotechnology, (185), p. S15, 2014

DOI: 10.1016/j.jbiotec.2014.07.053

Oxford University Press (OUP), Bioinformatics, 20(30), p. 2852-2859

DOI: 10.1093/bioinformatics/btu401

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H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

Journal article published in 2014 by Alberto Magi, Lorenzo Tattini, Flavia Palombo, Matteo Benelli, Alessandro Gialluisi, Betti Giusti ORCID, Rosanna Abbate, Marco Seri, Gian Franco Gensini, Giovanni Romeo, Tommaso Pippucci
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 SNP microarrays, but attempts have been made to use Whole Exome Sequencing (WES) data. Currently available methods developed for the analysis of uniformly spaced SNP-array maps do not fit easily the sparse and non uniform distribution of the WES target design.