2011PubMedRequires access

[Screening of Tag SNPs and prediction of their potential function in genetic studies of complex diseases].

Zhu Ym, Xu Yy, Jie Ling

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Abstract

We applied public databases of single nucleotide polymorphism (SNP) to screen complex disease-related SNPs and assessed the potential functions of selected SNPs through SNP function prediction software, including FastSNP, SNP Function Prediction, F-SNP. We selected Tag SNP in HapMap database and compared all results with above software. With above strategies we screened IGFBP7 gene and obtained total 47 SNPs, including 11 TFBS SNPs, 31 intronic enhancer SNPs, 4 intronic enhancer and TFBS SNPs and 1 splicing sites SNPs.

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What this paper is about

We applied public databases of single nucleotide polymorphism (SNP) to screen complex disease-related SNPs and assessed the potential functions of selected SNPs through SNP function prediction software, including FastSNP, SNP Function Prediction, F-SNP. We selected Tag SNP in HapMap database and compared all results with above software. With above strategies we screened IGFBP7 gene and obtained total 47 SNPs, including 11 TFBS SNPs, 31 intronic enhancer SNPs, 4 intronic enhancer and TFBS SNPs and 1 splicing sites SNPs.

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Available abstract

We applied public databases of single nucleotide polymorphism (SNP) to screen complex disease-related SNPs and assessed the potential functions of selected SNPs through SNP function prediction software, including FastSNP, SNP Function Prediction, F-SNP. We selected Tag SNP in HapMap database and compared all results with above software. With above strategies we screened IGFBP7 gene and obtained total 47 SNPs, including 11 TFBS SNPs, 31 intronic enhancer SNPs, 4 intronic enhancer and TFBS SNPs and 1 splicing sites SNPs.

Key concepts: Single-nucleotide polymorphism, SNP, International HapMap Project, Tag SNP, SNP genotyping, Genetics, Biology, Enhancer

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