LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
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منابع مشابه
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
MOTIVATION The NCBI dbSNP database lists over 9 million single nucleotide polymorphisms (SNPs) in the human genome, but currently contains limited annotation information. SNPs that result in amino acid residue changes (nsSNPs) are of critical importance in variation between individuals, including disease and drug sensitivity. RESULTS We have developed LS-SNP, a genomic scale software pipeline...
متن کاملLS-SNP/PDB: annotated non-synonymous SNPs mapped to Protein Data Bank structures
SUMMARY LS-SNP/PDB is a new WWW resource for genome-wide annotation of human non-synonymous (amino acid changing) SNPs. It serves high-quality protein graphics rendered with UCSF Chimera molecular visualization software. The system is kept up-to-date by an automated, high-throughput build pipeline that systematically maps human nsSNPs onto Protein Data Bank structures and annotates several biol...
متن کاملNon-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease Association
Many DNA variants have been identified on more than 300 diseases and traits using Genome-Wide Association Studies (GWASs). Some have been validated using deep sequencing, but many fewer have been validated functionally, primarily focused on non-synonymous coding SNPs (nsSNPs). It is an open question whether synonymous coding SNPs (sSNPs) and other non-coding SNPs can lead to as high odds ratios...
متن کاملHuman non-synonymous SNPs: server and survey.
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 t...
متن کاملLarge-scale analysis of non-synonymous coding region single nucleotide polymorphisms
MOTIVATION Single nucleotide polymorphisms (SNPs) are the most common form of genetic variant in humans. SNPs causing amino acid substitutions are of particular interest as candidates for loci affecting susceptibility to complex diseases, such as diabetes and hypertension. To efficiently screen SNPs for disease association, it is important to distinguish neutral variants from deleterious ones. ...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2005
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/bti442