BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms
نویسندگان
چکیده
منابع مشابه
Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information
MOTIVATION There has been great expectation that the knowledge of an individual's genotype will provide a basis for assessing susceptibility to diseases and designing individualized therapy. Non-synonymous single nucleotide polymorphisms (nsSNPs) that lead to an amino acid change in the protein product are of particular interest because they account for nearly half of the known genetic variatio...
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ascribed to single nucleotide polymorphism (SNP) allelic variants that occur at a frequency of .1% (Ref. 1). Owing to the application of high-throughput SNP detection techniques, the number of identified SNPs is growing rapidly, enabling detailed statistical studies2–5. These include studies of SNPs that affect the amino acid sequence of a gene product (non-synonymous SNPs); they complement the...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2015
ISSN: 1756-994X
DOI: 10.1186/s13073-015-0190-y