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Bioinformatics. 2018 Nov 30. doi: 10.1093/bioinformatics/bty976. [Epub ahead of print]

Detection of rare disease variants in extended pedigrees using RVS.

Author information

Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore MD, USA.
Department of Oncology, Johns Hopkins School of Medicine, Baltimore MD, USA.
Département de Médecine Sociale et Préventive, Université Laval, Québec, Canada.



Family-based sequencing studies enable researchers to identify highly penetrant genetic variants too rare to be tested in conventional case-control studies, by studying co-segregation of variant and disease phenotype. When multiple affected subjects in a family are sequenced, the probability that a variant or a set of variants is shared identical-by-descent by some or all affected relatives provides evidence against the null hypothesis of complete absence of linkage and association. The Rare Variant Sharing software package RVS implements a suite of tools to assess association and linkage between rare genetic variants and a dichotomous disease indicator in family pedigrees.

Availability and Implementation:

RVS is available as open source software from the Bioconductor webpage at

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