Genome-wide patterns and properties of de novo mutations in humans

Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, Androniki, Chun, Sung, Renkens, Ivo, van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., de Bakker, Paul I. W., Sunyaev, Shamil R., Genome of the Netherlands Consortium and Li, Yingrui (2015) Genome-wide patterns and properties of de novo mutations in humans. Nature Genetics, 47 7: 822-826. doi:10.1038/ng.3292

Author Francioli, Laurent C.
Polak, Paz P.
Koren, Amnon
Menelaou, Androniki
Chun, Sung
Renkens, Ivo
van Duijn, Cornelia M.
Swertz, Morris
Wijmenga, Cisca
van Ommen, Gertjan
Slagboom, P. Eline
Boomsma, Dorret I.
Ye, Kai
Guryev, Victor
Arndt, Peter F.
Kloosterman, Wigard P.
de Bakker, Paul I. W.
Sunyaev, Shamil R.
Genome of the Netherlands Consortium
Li, Yingrui
Title Genome-wide patterns and properties of de novo mutations in humans
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
Publication date 2015-06-26
Sub-type Article (original research)
DOI 10.1038/ng.3292
Open Access Status Not Open Access
Volume 47
Issue 7
Start page 822
End page 826
Total pages 5
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect1, 2, 3, 4, 5, 6, 7, 8, 9, 10. Here we analyze 11,020 de novo mutations from the whole genomes of 250 families. We show that de novo mutations in the offspring of older fathers are not only more numerous11, 12, 13 but also occur more frequently in early-replicating, genic regions. Functional regions exhibit higher mutation rates due to CpG dinucleotides and show signatures of transcription-coupled repair, whereas mutation clusters with a unique signature point to a new mutational mechanism. Mutation and recombination rates independently associate with nucleotide diversity, and regional variation in human-chimpanzee divergence is only partly explained by heterogeneity in mutation rate. Finally, we provide a genome-wide mutation rate map for medical and population genetics applications. Our results provide new insights and refine long-standing hypotheses about human mutagenesis.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 31 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 30 times in Scopus Article | Citations
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