Detection of rare disease variants in extended pedigrees using RVS.
Bioinformatics
; 35(14): 2509-2511, 2019 07 15.
Article
in En
| MEDLINE
| ID: mdl-30500888
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Software
/
Rare Diseases
Type of study:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Bioinformatics
Journal subject:
INFORMATICA MEDICA
Year:
2019
Type:
Article