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Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the landscape of DNMs in the germ line. This work both refines and challenges some of the views previously held on the nature and origin of DNMs.

Original publication

DOI

10.1038/ng.3629

Type

Journal article

Journal

Nat Genet

Publication Date

27/07/2016

Volume

48

Pages

823 - 824

Keywords

Germ-Line Mutation, Humans, Point Mutation