Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

doi:10.1038/s41467-023-36606-w

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Article

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Nature communications - 15 Feb 2023

Bernkopf Marie, Abdullah Ummi B, Bush Stephen J, Wood Katherine A, Ghaffari Sahar, Giannoulatou Eleni, Koelling Nils, Maher Geoffrey J, Thibaut Loïc M, Williams Jonathan, Blair Edward M, Kelly Fiona Blanco, Bloss Angela, Burkitt-Wright Emma, Canham Natalie, Deng Alexander T, Dixit Abhijit, Eason Jacqueline, Elmslie Frances, Gardham Alice, Hay Eleanor, Holder Muriel, Homfray Tessa, Hurst Jane A, Johnson Diana, Jones Wendy D, Kini Usha, Kivuva Emma, Kumar Ajith, Lees Melissa M, Leitch Harry G, Morton Jenny E V, Németh Andrea H, Ramachandrappa Shwetha, Saunders Katherine, Shears Deborah J, Side Lucy, Splitt Miranda, Stewart Alison, Stewart Helen, Suri Mohnish, Clouston Penny, Davies Robert W, Wilkie Andrew O M, Goriely Anne

Abstract excerpt

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1-2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providing individualized recurrence risk. By combining locus-specific sequencing of multiple tissues to detect occult...

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PMID: 36792598
DOI: 10.1038/s41467-023-36606-w
PMCID: PMC9932158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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