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

Clinical Genomics

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