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

Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

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 …

Abstract The Sorting Intolerant from Tolerant (SIFT) algorithm predicts the effect of coding
variants on protein function. It was first introduced in 2001, with a corresponding website that …

A central challenge in interpreting personal genomes is determining which mutations most
likely influence disease. Although progress has been made in scoring the functional impact …

The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …

To define the role of rare variants in advanced age-related macular degeneration (AMD)
risk, we sequenced the exons of 681 genes within all reported AMD loci and related …

Exome sequencing and the genetic basis of complex traits | Nature Genetics Skip to main
content Thank you for visiting nature.com. You are using a browser version with limited support …

Each person's genome sequence has thousands of missense variants. Practical
interpretation of their functional significance must rely on computational inferences in the …