The global nephrology community recognises the need for a cohesive plan to address the
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …

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 …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …

Through characterising the geographic and functional spectrum of human genetic variation,
the 1000 Genomes Project aims to build a resource to help understand the genetic …

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

Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

Behavioral Genetics, Fifth Edition provides an engaging and clear overview of human and
animal behavioral genetics that is designed to introduce students in the behavioral …

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 …

Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …