Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

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 …

The germline mutation rate has been extensively studied and has been found to vary greatly
between species, but much less is known about the somatic mutation rate in multicellular …

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 …

The human genome is generally organized into stable chromosomes, and only tumor cells
are known to accumulate kilobase (kb)-sized extrachromosomal circular DNA elements …

The reference human genome sequence is inarguably the most important and widely used
resource in the fields of human genetics and genomics. It has transformed the conduct of …

Abstract Charcot–Marie–Tooth disease and the related disorders hereditary motor
neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the …

Although the human germline mutation rate is higher than that in any other well-studied
species, the rate is not exceptional once the effective genome size and effective population …

Despite centuries of research, much about the barbarian migrations that took place between
the fourth and sixth centuries in Europe remains hotly debated. To better understand this key …