FSuite: exploiting inbreeding in dense SNP chip and exome data.
Bioinformatics
; 30(13): 1940-1, 2014 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-24632498
ABSTRACT
UNLABELLED 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. AVAILABILITY AND IMPLEMENTATION FSuite is developed in Perl and uses R functions to generate graphical outputs. This pipeline is freely available under GNU GPL license at http//genestat.cephb.fr/software/index.php/FSuite.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Software
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Consanguinidade
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Polimorfismo de Nucleotídeo Único
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Exoma
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article