As a first step toward understanding how rare variants contribute to risk for complex diseases,
we sequenced 15,585 human protein-coding genes to an average median depth of 111× …

Although recent genome-wide studies have provided valuable insights into the genetic basis
of human disease, they have explained relatively little of the heritability of most complex …

Although whole-genome association studies using tagSNPs are a powerful approach for
detecting common variants, they are underpowered for detecting associations with rare variants…

The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …

Opioid drugs play important roles in the clinical management of pain, as well as in the
development and treatment of drug abuse. The mu opioid receptor is the primary site of action for …

Establishing the age of each mutation segregating in contemporary human populations is
important to fully understand our evolutionary history 1 , 2 and will help to facilitate the …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …

Background: Majeed syndrome is an autosomal recessive, autoinflammatory disorder
characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic …

Here we identified a population of bone marrow neutrophils that constitutively expressed
the transcription factor RORγt and produced and responded to interleukin 17A (IL-17A (IL-17)). …