Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …

Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Background Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that
is poorly understood. We identified six families with multiple cases of systemic and …

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 …

Genes disrupted in schizophrenia may be revealed by de novo mutations in affected
persons from otherwise healthy families. Furthermore, during normal brain development …

We report germline missense mutations in ETV6 segregating with the dominant transmission
of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a …

This article reviews basic concepts, general applications, and the potential impact of next-
generation sequencing (NGS) technologies on genomics, with particular reference to …

Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Background A central aim for studying runs of homozygosity (ROHs) in genome-wide SNP
data is to detect the effects of autozygosity (stretches of the two homologous chromosomes …