Detection of rare disease variants in extended pedigrees using RVS

Thomas Sherman, Jack Fu, Robert B. Scharpf, Alexandre Bureau, Ingo Ruczinski

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article numberbty976
Pages (from-to)2509-2511
Number of pages3
Issue number14
StatePublished - Jul 15 2019

ASJC Scopus subject areas

  • Statistics and Probability
  • Biochemistry
  • Molecular Biology
  • Computer Science Applications
  • Computational Theory and Mathematics
  • Computational Mathematics


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