Article
When "N of 2" is not enough: integrating statistical and functional data in gene discovery.
Cold Spring Harbor molecular case studies - 1 May 2017
Cassa Christopher A, Akle Sebastian, Jordan Daniel M, Rosenfeld Jill A
Abstract excerpt
The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases ["N of 2"] in which variants are present in the same gene). These second case hits provide statistical evidence of an association, which may then be combined with functional...
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