h4RVS

The "h4RVS" software tool is a part of the Rare Variant Sharing (RVS) suite, designed for family-based sequencing studies. It allows researchers to investigate the co-segregation of highly penetrant genetic variants in families, which are too rare for conventional case-control studies. The tool provides evidence for or against the null hypothesis of no linkage and association by assessing the probability of variants being shared identically by descent among affected relatives.

Topic

Mapping;Genotype and phenotype;Rare diseases

Detail

  • Operation: Genotyping;Variant calling;Collapsing methods

  • Software interface: Library

  • Language: R

  • License: GNU General Public License, version 2

  • Cost: Free

  • Version name: 1.24.0

  • Credit: NIDCR

  • Input: -

  • Output: -

  • Contact: Thomas Sherman tomsherman159@gmail.com

  • Collection: -

  • Maturity: Stable

Publications

  • Detection of rare disease variants in extended pedigrees using RVS.
  • Sherman T, et al. Detection of rare disease variants in extended pedigrees using RVS. Detection of rare disease variants in extended pedigrees using RVS. 2019; 35:2509-2511. doi: 10.1093/bioinformatics/bty976
  • https://doi.org/10.1093/BIOINFORMATICS/BTY976
  • PMID: 30500888
  • PMC: PMC6612888

Download and documentation

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