PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

ABSTRACT:

Background

We propose a phenotype-driven analysis of encrypted exome data to facilitate the widespread implementation of exome sequencing as a clinical genetic screening test.Twenty test-patients with varied syndromes were selected from the literature. For each patient, the mutation, phenotypic data, and genetic diagnosis were available. Next, control exome-files, each modified to include one of these twenty mutations, were assigned to the corresponding test-patients. These data were used by a geneticist blinded to the diagnoses to test the efficiency of our software, PhenoVar. The score assigned by PhenoVar to any genetic diagnosis listed in OMIM (Online Mendelian Inheritance in Man) took into consideration both the patient's phenotype and all variations present in the correspondi

SUBMITTER: Trakadis YJ 

PROVIDER: S-EPMC4030287 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature