The influence of disease categories on gene candidate predictions from model organism phenotypes.

ABSTRACT:

Background

The molecular etiology is still to be identified for about half of the currently described Mendelian diseases in humans, thereby hindering efforts to find treatments or preventive measures. Advances, such as new sequencing technologies, have led to increasing amounts of data becoming available with which to address the problem of identifying disease genes. Therefore, automated methods are needed that reliably predict disease gene candidates based on available data. We have recently developed Exomiser as a tool for identifying causative variants from exome analysis results by filtering and prioritising using a number of criteria including the phenotype similarity between the disease and mouse mutants involving the gene candidates. Initial investigations revealed a variati

SUBMITTER: Oellrich A 

PROVIDER: S-EPMC4108905 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature