Animals transmit not only DNA but also other molecules, such as RNA, proteins and
metabolites, to their progeny via gametes. It is currently unclear to what extent these …

Motivation: Whole-genome high-coverage sequencing has been widely used for personal
and cancer genomics as well as in various research areas. However, in the lack of an …

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 …

Population size history is essential for studying human evolution. However, ancient
population size history during the Pleistocene is notoriously difficult to unravel. In this study …

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

Benchmark small variant calls are required for develo**, optimizing and assessing the
performance of sequencing and bioinformatics methods. Here, as part of the Genome in a …

We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

During the course of a lifetime, somatic cells acquire mutations. Different mutational
processes may contribute to the mutations accumulated in a cell, with each imprinting a …

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 …

INTRODUCTION Diversity in the sequence of the human genome, arising from
recombinations and mutations, is fundamental to human evolution and human diversity …