“n=1” cases in GeneMatcher: Reporting alterations in truly novel disease genes
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.
Authors: Deepali Shinde; Taylor Cain; Wendy Alcaraz; Zöe Powis