GeneticsbioRxivPreprint
The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely
The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.
2 citations