Article
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
Molecular psychiatry - 1 Feb 2013
Ku C S, Polychronakos C, Tan E K, Naidoo N, Pawitan Y, Roukos D H, Mort M, Cooper D N
Abstract excerpt
The study of de novo point mutations (new germline mutations arising from the gametes of the parents) remained largely static until the arrival of next-generation sequencing technologies, which made both whole-exome sequencing (WES) and whole-genome sequencing (WGS) feasible in practical terms. Single nucleotide polymorphism genotyping arrays have been used to identify de novo copy-number variants in a number of...
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