4.7 Article

FSuite: exploiting inbreeding in dense SNP chip and exome data

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BIOINFORMATICS
卷 30, 期 13, 页码 1940-1941

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OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btu149

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  1. plateforme de genomique constitutionnelle (Faculte de medecine, Universite Paris-Diderot, Paris, France)

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FSuite is a user-friendly pipeline developed for exploiting inbreeding information derived from human genomic data. It can make use of single nucleotide polymorphism chip or exome data. Compared with other software, the advantage of FSuite is that it provides a complete suite of scripts to describe and use the inbreeding information. It includes a module to detect inbred individuals and estimate their inbreeding coefficient, a module to describe the proportion of different mating types in the population and the individual probability to be offspring of different mating types that can be useful for population genetic studies. It also allows the identification of shared regions of homozygosity between affected individuals (homozygosity mapping) that can be used to identify rare recessive mutations involved in monogenic or multifactorial diseases.

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