A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.

ABSTRACT: Whole-exome sequencing has become a fundamental tool for the discovery of disease-related genes of familial diseases and the identification of somatic driver variants in cancer. However, finding the causal mutation among the enormous background of individual variability in a small number of samples is still a big challenge. Here we describe a web-based tool, BiERapp, which efficiently helps in the identification of causative variants in family and sporadic genetic diseases. The program reads lists of predicted variants (nucleotide substitutions and indels) in affected individuals or tumor samples and controls. In family studies, different modes of inheritance can easily be defined to filter out variants that do not segregate with the disease along the family. Moreover, BiERapp integrates a

SUBMITTER: Aleman A 

PROVIDER: S-EPMC4086071 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature