Article

Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling

2024-08-13

Abstract excerpt

<title>Abstract</title> Background: <italic>De novo</italic> mutations (DNMs) significantly impact health, particularly through developmental disorders. DNMs occur in both paternal and maternal germlines via diverse mechanisms including parental early embryonic mosaicism, which increases recurrence risk for future pregnancies through germline mosaicism. Embryonic mosaicism is divided based on primordial germ...

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Literature Corpus work: 6d0f5f08-376b-5ad0-8e53-5eb61cb9ceb2
DOI: 10.21203/rs.3.rs-4874550/v1

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