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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Abnormalities
• Share to Genome, Human