This study is part of the 'First 1,000 Days of Life and Beyond' study at the Inova Translational Medicine Institute. Whole-genome sequencing data from 1,291 parent-offspring trios was used to study the properties of clustered de novo mutations. The maternal clusters were found to be enriched in regions with accelerated maternal mutation rate and show distinct mutational signatures. For additional details, please refer to: "Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence". Jakob M. Goldmann, Vladimir B. Seplyarskiy, Wendy S.W. Wong, Thierry Vilboux, Pieter B. Neerincx, Dale L. Bodian, Benjamin D. Solomon, Joris A. Veltman, John F. Deeken, Christian Gilissen, John E. Niederhuber. <a href="https://www.ncbi.nlm.nih.gov/pubmed/29507425">Nature Genetics</a>.

Germline De Novo Mutations with Parent of Origin in WGS Trios

1 selected publication including "Germline de novo mutation clusters arise during oocyte aging in genomi..." (69 citations)

Germline De Novo Mutations with Parent of Origin in WGS Trios

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence