Detection of rare disease variants in extended pedigrees using RVS

Bioinformatics. 2019 Jul 15;35(14):2509-2511. doi: 10.1093/bioinformatics/bty976.


Summary: 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 phenotypes. 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

Supplementary information: Supplementary data are available at Bioinformatics online.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Genetic Linkage
  • Humans
  • Pedigree
  • Phenotype
  • Rare Diseases*
  • Software*