Much of the recent advances in functional genomics owe to developments in next-
generation sequencing technology, which has contributed to the exponential increase of …

Given the continuing difficulty of identifying genes for complex disorders in a robust,
replicable manner, and the extensive resources devoted to this effort, it is becoming …

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 …

Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …

Understanding the regulatory landscape of the human genome is a long-standing objective
of modern biology. Using the reference-free alignment across 241 mammalian genomes …

Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …

Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

Structural variants contribute substantially to genetic diversity and are important
evolutionarily and medically, but they are still understudied. Here we present a …

Studies correlating genetic variation to gene expression facilitate the interpretation of
common human phenotypes and disease. As functional variants may be operating in a …

Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we
still lack a systematic mapping from any sequence or variant to regulatory activities. We …