Genomic

Dataset Information

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Whole Genome Study for De Novo Mutation Rates


ABSTRACT:

Germline mutations are the source of evolution and contribute substantially to many health-related processes. In this study, we use whole genome deep sequencing data from parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring.

We studied correlation between parental ages with de novo mutation rates. This study is published in Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE. New observations on maternal age effect on germline de novo mutations. Nat Commun. 2016 Jan 19;7:10486 (PMID: 26781218. Also, we studied differences in molecular signatures in paternal versus maternal origin of de novo mutations. This study is published in Jakob M. Goldmann, Wendy S.W. Wong, Michele Pinelli, Terry Farrah, Dale Bodian, Anna B. Stittrich, Gustavo Glusman, Lisenka E.L.M. Vissers, Alexander Hoischen, Jared C. Roach, Joseph G. Vockley, Joris A. Veltman, Benjamin D. Solomon, Christian Gilissen, John E. Niederhuber. Parent-of-origin specific signatures of de novo mutations. Nat Genet. 2016 Aug;48(8):935-9, PMID: 27322544.

PROVIDER: phs001055 | dbGaP |

SECONDARY ACCESSION(S): PRJNA307292PRJNA307291

REPOSITORIES: dbGaP

Dataset's files

Source:
Action DRS
GapExchange_phs001055.v1.p1.xml Xml
dbGaPEx2.1.5.xsd Other
Study_Report.phs001055.DeNovoMutationRates.v1.p1.MULTI.pdf Pdf
manifest_phs001055.DeNovoMutationRates.v1.p1.c1.GRU.pdf Pdf
datadict_v2.xsl Other
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