Single nucleotide polymorphisms (SNPs) constitute the bulk of human genetic variation,
occurring with an average density of∼ 1/1000 nucleotides of a genotype. SNPs are either …

Abstract Analysis of human genetic variation can shed light on the problem of the genetic
basis of complex disorders. Nonsynonymous single nucleotide polymorphisms (SNPs) …

A major interest in human genetics is to determine whether a nonsynonymous single-base
nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently …

Single nucleotide polymorphisms (SNPs) constitute the most fundamental type of genetic
variation in human populations. About 75 000 of these reported variations cause an amino …

Human single nucleotide polymorphisms (SNPs) represent the most frequent type of human
population DNA variation. One of the main goals of SNP research is to understand the …

Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that
introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect …

Motivation: There has been great expectation that the knowledge of an individual's genotype
will provide a basis for assessing susceptibility to diseases and designing individualized …

Abstract The Functional Single Nucleotide Polymorphism (F-SNP) database integrates
information obtained from 16 bioinformatics tools and databases about the functional effects …

We have developed two methods of identifying which non-synonomous single base
changes have a deleterious effect on protein function in vivo. One method, described …

The identification of genetic variants that are responsible for human inherited diseases is a
fundamental problem in human and medical genetics. As a typical type of genetic variation …