Article

The Refined Recurrence Risk of <i>De Novo</i> variants Due to Parental Mosaicism

2025-07-02

Abstract excerpt

<h4>Summary</h4> 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). Co...

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Literature Corpus work: 72aa11e3-7568-5422-92f7-b27d05959358
DOI: 10.1101/2025.07.02.25330538

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