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“n=1” cases in GeneMatcher: Reporting alterations in truly novel disease genes

Session:
#47
Date:
Thursday, Jun 29, 2017 12:00pm – 12:00pm
Conference:
—
Authors:
Deepali Shinde, Taylor Cain, Wendy Alcaraz, Zöe Powis
  • Whole Exome Sequencing is a powerful tool for the identification of pathogenic alterations in novel candidate disease genes.
  • Despite global data sharing efforts such as those facilitated by GeneMatcher, alterations in rare disease genes might only be identified in n=1 cases.
  • Clinical reporting of such rare alterations, especially ones with strong experimental and animal model evidence, is essential for healthcare management and family planning.
Poster