Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…

We developed a method, ChIP-sequencing (ChIP-seq), combining chromatin immunoprecipitation
(ChIP) and massively parallel sequencing to identify mammalian DNA sequences …

Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …

Background Whole-genome sequencing may revolutionize medical diagnostics through rapid
identification of alleles that cause disease. However, even in cases with simple patterns of …

High-throughput sequencing technology enables population-level surveys of human genomic
variation. Here, we examine the joint allele frequency distributions across continental …

Sequence-based methods for transcriptome characterization have typically relied on generation
of either serial analysis of gene expression tags or expressed sequence tags. Although …

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome
sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or …

Next-generation sequencing can provide insight into protein–DNA association events on a
genome-wide scale, and is being applied in an increasing number of applications in …

Whole-genome sequencing of patient DNA can facilitate diagnosis of a disease, but its
potential for guiding treatment has been under-realized. We interrogated the complete genome …

Quasar absorption lines provide a precise test of whether the fine-structure constant, α, is
the same in different places and through cosmological time. We present a new analysis of a …