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Germline De Novo Mutations with Parent of Origin in WGS Trios

ABSTRACT:

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. Nature Genetics.

PROVIDER: phs001522 | dbGaP |

SECONDARY ACCESSION(S): PRJNA430295PRJNA430296

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs001522.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001522.GermlineDeNovoMutations.v1.p1.MULTI.pdf	Pdf
	manifest_phs001522.GermlineDeNovoMutations.v1.p1.c1.GRU-IRB.pdf	Pdf
	datadict_v2.xsl	Other

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