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 …

Germline mutations are a driving force behind genome evolution and genetic disease. We
investigated genome-wide mutation rates and spectra in multi-sibling families. The mutation …

A central tenet in evolutionary theory is that mutations occur randomly with respect to their
value to an organism; selection then governs whether they are fixed in a population. This …

The characterization of mutational processes that generate sequence diversity in the human
genome is of paramount importance both to medical genetics, and to evolutionary studies …

Cancer genome sequencing has revealed considerable variation in somatic mutation rates
across the human genome, with mutation rates elevated in heterochromatic late replicating …

All cancers carry somatic mutations. A subset of these somatic alterations, termed driver
mutations, confer selective growth advantage and are implicated in cancer development …

Abstract Knowledge of the rate and pattern of new mutation is critical to the understanding of
human disease and evolution. We used extensive autozygosity in a genealogically well …

Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …

Somatic mutations are an inevitable component of ageing and the most important cause of
cancer. The rates and types of somatic mutation vary across individuals, but relatively few …

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 …