Article
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
BMC bioinformatics - 21 Jul 2014
Masino Aaron J, Dechene Elizabeth T, Dulik Matthew C, Wilkens Alisha, Spinner Nancy B, Krantz Ian D, Pennington Jeffrey W, Robinson Peter N, White Peter S
Abstract excerpt
BACKGROUND: Exome sequencing is a promising method for diagnosing patients with a complex phenotype. However, variant interpretation relative to patient phenotype can be challenging in some scenarios, particularly clinical assessment of rare complex phenotypes. Each patient's sequence reveals many possibly damaging variants that must be individually assessed to establish clear association with patient phenotype....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.