GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.

ABSTRACT:

Unlabelled

When performing DNA sequencing to diagnose affected individuals with monogenic forms of rare diseases, accurate attribution of causality to detected variants is imperative but imperfect. Even if a gene has variants already known to cause a disease, rare disruptive variants predicted to be causal are not always so, mainly due to imperfect ability to predict the pathogenicity of variants. Existing population-scale sequence resources such as 1000 Genomes are useful to quantify the 'background prevalence' of an unaffected individual being falsely predicted to carry causal variants. We developed GeneVetter to allow users to quantify the 'background prevalence' of subjects with predicted causal variants within specific genes under user-specified filtering parameters. GeneVette

SUBMITTER: Gillies CE 

PROVIDER: S-EPMC4643620 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature