RVs-r

The "RVs-r" tool extends the Rare Variant Sharing (RVS) methodology for identifying causal rare variants (RVs) in complex and heterogeneous diseases using affected relatives. This extension includes gene-based analyses, partial sharing tests for incomplete sharing among affected relatives, and a haplotype-based RV definition. RVS doesn't require external estimates of variant frequency or control samples, provides functionality to address assumption violations, and is available as open-source software for genome-wide analysis.

Topic

Mapping;Genotype and phenotype;Exome sequencing;Rare diseases;Genomics

Detail

  • Operation: Genotyping;Collapsing methods;Haplotype mapping;Imputation

  • Software interface: Library

  • Language: R

  • License: GNU General Public License, version 2

  • Cost: Free

  • Version name: 1.24.0

  • Credit: The Canadian Statistical Sciences Institute, National Institute of Dental and Craniofacial Research, the National Institutes of Health (NIH), the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health, USA, the Ibn Al-Nafees Hospital, Syrian Arab Republic, the Center for Inherited Disease Research, Johns Hopkins University.

  • Input: -

  • Output: -

  • Contact: Thomas Sherman tomsherman159@gmail.com

  • Collection: -

  • Maturity: Stable

Publications

  • Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants.
  • Bureau A, et al. Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants. Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants. 2019; 43:37-49. doi: 10.1002/gepi.22155
  • https://doi.org/10.1002/GEPI.22155
  • PMID: 30246882
  • PMC: PMC6330140

Download and documentation

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