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

@article{Karchin2005LSSNPLA,
  title={LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources},
  author={Rachel Karchin and Mark Diekhans and Libusha Kelly and Daryl J. Thomas and Ursula Pieper and Narayanan Eswar and David Haussler and Andrej Sali},
  journal={Bioinformatics},
  year={2005},
  volume={21 12},
  pages={2814-20}
}
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 nsSNPs. LS-SNP comprehensively maps nsSNPs onto protein sequences, functional pathways… CONTINUE READING
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