articleNucleic Acids ResearchAug 30, 2002BRONZE OA

Human non-synonymous SNPs: server and survey

European Molecular Biology Laboratory

PubMed
Indexed incrossrefdoajpubmed

Abstract

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 genetics of the human phenotype variation and especially the genetic basis of human complex diseases. Non-synonymous coding SNPs (nsSNPs) comprise a group of SNPs that, together with SNPs in regulatory regions, are believed to have the highest impact on phenotype. Here we present a World Wide Web server to predict the effect of an nsSNP on protein structure and function. The prediction method enabled analysis of the publicly available SNP database HGVbase, which gave rise to a dataset of nsSNPs with predicted functionality. The dataset was…

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Topics & keywords

Keywords
  • Single-nucleotide polymorphism
  • Biology
  • SNP
  • Genetics
  • Phenotype
  • Tag SNP
  • Population
  • Computational biology
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