Article
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Genome medicine - 12 Jan 2017
Patel Ronak Y, Shah Neethu, Jackson Andrew R, Ghosh Rajarshi, Pawliczek Piotr, Paithankar Sameer, Baker Aaron, Riehle Kevin, Chen Hailin, Milosavljevic Sofia, Bizon Chris, Rynearson Shawn, Nelson Tristan, Jarvik Gail P, Rehm Heidi L, Harrison Steven M, Azzariti Danielle, Powell Bradford, Babb Larry, Plon Sharon E, Milosavljevic Aleksandar
Abstract excerpt
BACKGROUND: The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation process through practice guidelines, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have published standards and guidelines for the interpretation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.