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Accurate prediction of deleterious protein kinase polymorphisms
Author(s) -
Ali Torkamani,
Nicholas J. Schork
Publication year - 2007
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btm437
Subject(s) - single nucleotide polymorphism , human genome , computational biology , biology , genetics , gene , coding region , genetic association , dna sequencing , genome , bioinformatics , genotype
Contemporary, high-throughput sequencing efforts have identified a rich source of naturally occurring single nucleotide polymorphisms (SNPs), a subset of which occur in the coding region of genes and result in a change in the encoded amino acid sequence (non-synonymous coding SNPs or 'nsSNPs'). It is hypothesized that a subset of these nsSNPs may underlie common human disease. Testing all these polymorphisms for disease association would be time consuming and expensive. Thus, computational methods have been developed to both prioritize candidate nsSNPs and make sense of their likely molecular physiologic impact.

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