Detection of rare disease variants in extended pedigrees using RVS

Research output: Contribution to journalArticle

Abstract

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 https://bioconductor.org/packages/release/bioc/html/RVS.html. Supplementary information: Supplementary data are available at Bioinformatics online.

Original languageEnglish (US)
Article numberbty976
Pages (from-to)2509-2511
Number of pages3
JournalBioinformatics
Volume35
Issue number14
DOIs
StatePublished - Jul 15 2019

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Pedigree
Rare Diseases
Software
Linkage
Bioinformatics
Computational Biology
Software packages
Case-Control Studies
Case-control Study
Open Source Software
Research Personnel
Availability
Segregation
Descent
Phenotype
Null hypothesis
Software Package
Sequencing
Sharing
Family

ASJC Scopus subject areas

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

Cite this

Detection of rare disease variants in extended pedigrees using RVS. / Sherman, Thomas; Fu, Jack; Scharpf, Robert B; Bureau, Alexandre; Ruczinski, Ingo.

In: Bioinformatics, Vol. 35, No. 14, bty976, 15.07.2019, p. 2509-2511.

Research output: Contribution to journalArticle

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