The Refined Recurrence Risk of De Novo variants Due to Parental Mosaicism
Sonja Neuser, Natalie Ahmad, Denny Popp, Julia Hentschel, Johannes R. Lemke, Knut Krohn, Anna-Lisa Schween, Maike Karnstedt, Stephan Drukewitz, John Wiedenhöft, Rami Abou Jamra
The paper assesses parental mosaicism in families with de novo variants, finding 4.4% parental mosaicism and proposing amplicon-based sequencing for improved recurrence risk assessment.
medRxiv · Jul 2, 2025 · PreprintGenetic & Genomic Medicine