Exome & General Genetics

Session # Abstract Poster# 719

N of One” Is the Loneliest Number: How a Lack of Corroborating Case Reports is Hindering the Classification of Genes

  • Ambry Genetics has reported novel candidate gene findings in 234 cases for 190 different genes.
  • Ongoing reassessment of uncharacterized gene reported on diagnostic exome sequencing (DES) to date has resulted in the establishment of a gene-disease relationship in approximately 1/3 (35.4%).
  • Of the remaining 115 uncharacterized genes, 67 (57.8%) were reported 2 or more years ago, meaning there was sufficient evidence at the time to associate the gene with disease; however robust patient data has not yet become available

  • Authors: Meghan Towne; Brian Schoenfeld; Kirsten Blanco; Sha Tang; Kelly Radtke; Kelly Farwell Hagman; Deepali Shinde
  • Conference: Annual Clinical Genetics Meeting (ACMG) 2019
  • Date: Thursday, Apr 04, 2019 10:00am - 11:30am

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