Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …

Colorectal cancer (CRC) results from the progressive accumulation of multiple genetic and
epigenetic aberrations within cells. The progression from colorectal adenoma to carcinoma …

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 …

CRISPR–Cas9 editing shows promise for correcting disease-causing mutations. For
example, in a recent study we used CRISPR-Cas9 for sight restoration in blind rd1 mice by …

The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …

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 …

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We
show that her parents were related at the level of half-siblings and that mating among close …

It has been shown that Neanderthals contributed genetically to modern humans outside
Africa 47,000–65,000 years ago. Here we analyse the genomes of a Neanderthal and a …

Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

Mutations generate sequence diversity and provide a substrate for selection. The rate of de
novo mutations is therefore of major importance to evolution. Here we conduct a study of …