Reactive oxygen species are a constant threat to DNA as they modify bases with the risk of
disrupting genome function, inducing genome instability and mutation. Such risks are due to …

Mutation of the human genome results in three classes of genomic variation: single
nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some …

The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …

Despite the important role that monozygotic twins have played in genetics research, little is
known about their genomic differences. Here we show that monozygotic twins differ on …

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 textbook view that most germline mutations in mammals arise from replication errors is
indirectly supported by the fact that there are both more mutations and more cell divisions in …

In the past decade, several studies have estimated the human per-generation germline
mutation rate using large pedigrees. More recently, estimates for various nonhuman species …

Biobanks aim to improve our understanding of health and disease by collecting and
analysing diverse biological and phenotypic information in large samples. So far, biobanks …

Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …

Each human genome includes de novo mutations that arose during gametogenesis. While
these germline mutations represent a fundamental source of new genetic diversity, they can …