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 …

Human germline de novo mutations (DNMs) are both a driver of evolution and an important
cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of …

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 …

Somatic cells acquire mutations throughout the course of an individual's life. Mutations
occurring early in embryogenesis are often present in a substantial proportion of, but not all …

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 …

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 …

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 …

De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the
contribution of post-zygotic mutation to ASD is poorly characterized. We performed both …

Neurodevelopmental disorders (NDDs), including intellectual disability (ID), autism and
schizophrenia, have high socioeconomic impact, yet poorly understood etiologies. A recent …

Attention deficit/hyperactivity disorder (ADHD) is a common and heritable phenotype
frequently accompanied by insomnia, anxiety, and depression. Here, using a reverse …