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“N of one” is the loneliest number: How a lack of corroborating case reports is hindering the classification of genes

Date:
Thursday, Apr 4, 2019 10:00am – 11:30am
Conference:
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Authors:
Brian Schoenfeld, Deepali Shinde, Kelly Farwell Hagman, Kelly Radtke, Kirsten Blanco, Meghan Towne, Sha Tang
  • 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
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