Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

We describe an assay for transposase-accessible chromatin using sequencing (ATAC-seq),
based on direct in vitro transposition of sequencing adaptors into native chromatin, as a …

Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease
(IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or …

Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …

Through characterising the geographic and functional spectrum of human genetic variation,
the 1000 Genomes Project aims to build a resource to help understand the genetic …

The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …

Cell-to-cell variation is a universal feature of life that affects a wide range of biological
phenomena, from developmental plasticity, to tumour heterogeneity. Although recent …