PolyPhen‐2 (Polymorphism Phenotyping v2), available as software and via a Web server,
predicts the possible impact of amino acid substitutions on the stability and function of human …

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× …

How disease-associated mutations impair protein activities in the context of biological networks
remains mostly undetermined. Although a few renowned alleles are well characterized, …

Evidence has been gathered during the past 10 years that the pineal gland controls several
important physiological processes. Melatonin, a pineal indoleamine derived from serotonin, …

Bats account for one-fifth of mammalian species, are the only mammals with powered flight,
and are among the few animals that echolocate. The insect-eating Brandt’s bat (Myotis …

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for
cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 …

The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …

Background Binary diagnosis of coronary artery disease does not preserve the complexity of
disease or quantify its severity or its associated risk with death; hence, a quantitative marker …

The temporal organization of plasma melatonin. cortisol. growth hormone (GH) and prolactin
secretion was examined in healthy rested controls and in patients suffering from episodic …

The evolutionary cost of gene loss is a central question in genetics and has been investigated
in model organisms and human cell lines 1, 2, 3. In humans, tolerance of the loss of one or …