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The Refined Recurrence Risk of De Novo variants Due to Parental Mosaicism
2025-07-02
genetic and genomic medicine
Title + abstract only
View on medRxiv
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Parents of children with genetic disorders due to de novo variants are counselled on a recurrence risk estimate of 1-5% for further affected siblings, while the actual probability varies between 0 and 50%. This discrepancy is well known, but barely investigated. We enrolled 135 families, in which a child had been previously identified with a pathogenic seemingly de novo variant (in 140 genes). Covering two germ layers, we collected blood (n=269), buccal (n=223) and nail samples (n=223) of both p...
Predicted journal destinations
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The American Journal of Human Genetics
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Nature
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