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Article

HomSI: a homozygous stretch identifier from next-generation sequencing data.

Bioinformatics (Oxford, England) - 1 Feb 2014

Görmez Zeliha, Bakir-Gungor Burcu, Sagiroglu Mahmut Samil

Abstract excerpt

UNLABELLED: In consanguineous families, as a result of inheriting the same genomic segments through both parents, the individuals have stretches of their genomes that are homozygous. This situation leads to the prevalence of recessive diseases among the members of these families. Homozygosity mapping is based on this observation, and in consanguineous families, several recessive disease genes have been discovered...

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PMID: 24307702
DOI: 10.1093/bioinformatics/btt686

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