Solute carrier (SLC) transporters—a family of more than 300 membrane-bound proteins that
facilitate the transport of a wide array of substrates across biological membranes—have …

Landscape genomics is an emerging research field that aims to identify the environmental
factors that shape adaptive genetic variation and the gene variants that drive local …

Over the past few years, substantial effort has been put into the functional annotation of
variation in human genome sequences. Such annotations can have a critical role in …

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

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 …

Annotation of protein-coding genes is very important in bioinformatics and biology and has a
decisive influence on many downstream analyses. Homology-based gene prediction …

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical …

There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …

Abstract 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 …

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 …