Article
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.
Nature genetics - 1 Apr 2018
Goldmann Jakob M, Seplyarskiy Vladimir B, Wong Wendy S W, Vilboux Thierry, Neerincx Pieter B, Bodian Dale L, Solomon Benjamin D, Veltman Joris A, Deeken John F, Gilissen Christian, Niederhuber John E
Abstract excerpt
Clustering of mutations has been observed in cancer genomes as well as for germline de novo mutations (DNMs). We identified 1,796 clustered DNMs (cDNMs) within whole-genome-sequencing data from 1,291 parent-offspring trios to investigate their patterns and infer a mutational mechanism. We found that the number of clusters on the maternal allele was positively correlated with maternal age and that these clusters...
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