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LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

Bioinformatics (Oxford, England) - 15 Jun 2005

Karchin Rachel, Diekhans Mark, Kelly Libusha, Thomas Daryl J, Pieper Ursula, Eswar Narayanan, Haussler David, Sali Andrej

Abstract excerpt

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 to annotate...

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PMID: 15827081
DOI: 10.1093/bioinformatics/bti442

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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