De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood.
DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early …

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 …

The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …

Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

The number of de novo mutations (DNMs) found in an offspring's genome increases with
both paternal and maternal age. But does the rate of mutation accumulation in human …

De novo mutations are recognized both as an important source of genetic variation and as a
prominent cause of sporadic disease in humans. Mutations identified as de novo are …

Purpose: An emerging approach in medical genetics is to identify de novo mutations in
patients with severe early-onset genetic disease that are absent in population controls and …

Germline mutations are the source of evolution and contribute substantially to many health-
related processes. Here we use whole-genome deep sequencing data from 693 parents …

Clustering of mutations has been observed in cancer genomes as well as for germline de
novo mutations (DNMs). We identified 1,796 clustered DNMs (cDNMs) within whole-genome …

Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo
mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the …