title: Decoding germline de novo point mutations.
abstract: 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.
authors.affiliation: Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
authors.forename: Anne
authors.identifier: 0000-0001-9229-7216
authors.initials: A
authors.lastname: Goriely
mesh_terms: D018095:Germ-Line Mutation; D006801:Humans; D017354:Point Mutation