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

Francioli, L. C., Polak, P. P., Koren, A., Menelaou, A., Chun, S., Renkens, I., et al. (2015). Genome-wide patterns and properties of de novo mutations in humans. Nature Genetics, 47(7), 822-826. doi:10.1038/ng.3292.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-4F25-6 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-C658-E
Genre: Journal Article

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© 2015 Macmillan Publishers Limited
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 Creators:
Francioli, L. C., Author
Polak, P. P., Author
Koren, A., Author
Menelaou, A., Author
Chun, S., Author
Renkens, I., Author
Genome of the Netherlands, Consortium, Author
van Duijn, C. M., Author
Swertz, M., Author
Wijmenga, C., Author
van Ommen, G., Author
Slagboom, P. E., Author
Boomsma, D. I., Author
Ye, K., Author
Guryev, V., Author
Arndt, P. F.1, Author              
Kloosterman, W. P., Author
de Bakker, P. I., Author
Sunyaev, S. R., Author
Affiliations:
1Evolutionary Genomics (Peter Arndt), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479638              

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Free keywords: Animals Evolution, Molecular Female Genome, Human *Germ-Line Mutation Humans Male Models, Genetic Mutation Rate Pan troglodytes/genetics Paternal Age
 Abstract: Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect. 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 numerous 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.

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Language(s): eng - English
 Dates: 2015-05-182015-07
 Publication Status: Published in print
 Pages: 5
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/ng.3292
ISSN: 1546-1718 (Electronic)1061-4036 (Print)
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Title: Nature Genetics
  Other : Nature Genet.
Source Genre: Journal
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Publ. Info: New York, NY : Nature America, Inc.
Pages: - Volume / Issue: 47 (7) Sequence Number: - Start / End Page: 822 - 826 Identifier: ISSN: 1061-4036
CoNE: /journals/resource/954925598609