Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and i...
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling
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Author / Creator
Lecoquierre, François , Drouot, Nathalie , Coutant, Sophie , Quenez, Olivier , Fourneaux, Steeve , Jumeau, Fanny , Rives, Nathalie , Charbonnier, Françoise , Derambure, Céline , Boland, Anne , Olaso, Robert , Meyer, Vincent , Deleuze, Jean-François , Goldenberg, Alice , Guerrot, Anne-Marie , Charbonnier, Camille and Nicolas, Gaël
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
De novo mutations (DNMs) have a significant impact on human health, notably through their contribution to developmental disorders. DNMs occur in both paternal and maternal germlines via diverse mechanisms, including parental early embryonic mosaicism, at high recurrence risk for subsequent pregnancies through germline mosaicism. This phenomenon has...
Alternative Titles
Full title
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a2ff1e95ef644702ad1c989d7260cfdc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a2ff1e95ef644702ad1c989d7260cfdc
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1011651
