Exome sequencing — the targeted sequencing of the subset of the human genome that is
protein coding — is a powerful and cost-effective new tool for dissecting the genetic basis of …

We have not yet reached a point at which routine sequencing of large numbers of whole
eukaryotic genomes is feasible, and so it is often necessary to select genomic regions of interest …

CRISPR screens are a powerful source of biological discovery, enabling the unbiased
interrogation of gene function in a wide range of applications and species. In pooled CRISPR …

Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for example, …

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We
show that her parents were related at the level of half-siblings and that mating among close …

DNA sequence represents a single format onto which a broad range of biological phenomena
can be projected for high-throughput data collection. Over the past three years, massively …

We present a DNA library preparation method that has allowed us to reconstruct a high-coverage
(30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

It is well established that autism spectrum disorders (ASD) have a strong genetic component;
however, for at least 70% of cases, the underlying genetic cause is unknown 1 . Under the …

We demonstrate the first successful application of exome sequencing to discover the gene
for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four …