FSuite: exploiting inbreeding in dense SNP chip and exome data
FSuite: exploiting inbreeding in dense SNP chip and exome data
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DOI：
10.1093/bioinformatics/btu149
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发表时间：
2014-07-01
期刊：
影响因子：
5.8
通讯作者：
Leutenegger, Anne-Louise
中科院分区：
文献类型：
--
作者：
Gazal, Steven;Sahbatou, Mourad;Leutenegger, Anne-Louise
FSuite是一个用户友好的管道，用于利用来自人类基因组数据的近亲繁殖信息。它可以利用单核苷酸多态性芯片或外显子组数据。与其他软件相比，FSuite的优势在于它提供了一套完整的脚本来描述和使用近交信息。它包括一个检测近交个体并估计其近交系数的模块，一个描述不同交配类型在群体中所占比例以及个体成为不同交配类型后代的概率的模块，这些模块可用于群体遗传研究。它还允许鉴定受影响个体之间的共享纯合性区域（纯合性作图），其可用于鉴定涉及单基因或多因子疾病的罕见隐性突变。
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.