Article
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.
American journal of human genetics - 2 Jul 2015
Acuna-Hidalgo Rocio, Bo Tan, Kwint Michael P, van de Vorst Maartje, Pinelli Michele, Veltman Joris A, Hoischen Alexander, Vissers Lisenka E L M, Gilissen Christian
Abstract excerpt
De novo mutations are recognized both as an important source of genetic variation and as a prominent cause of sporadic disease in humans. Mutations identified as de novo are generally assumed to have occurred during gametogenesis and, consequently, to be present as germline events in an individual. Because Sanger sequencing does not provide the sensitivity to reliably distinguish somatic from germline mutations,...
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