Single-nucleotide polymorphism bioinformatics: a comprehensive review of resources.

Methods in Genetics and Clinical Interpretation Single-Nucleotide Polymorphism Bioinformatics A Comprehensive Review of Resources

In-silico study to identify the pathogenic single nucleotide polymorphisms in the coding region of CDKN2A gene

Background: CDKN2A, encoding two important tumor suppressor proteins p16 and p14, is a tumor suppressor gene. Mutations in this gene and subsequently the defect in p16 and p14 proteins lead to the downregulation of RB1/p53 and cancer malignancy. To identify the structural and functional effects of mutations, various powerful bioinformatics tools are available. The aim of this study is the ident...

Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis

Since the initial sequencing of the human genome, many projects are underway to understand the effects of genetic variation between individuals. Predicting and understanding the downstream effects of genetic variation using computational methods are becoming increasingly important for single nucleotide polymorphism (SNP) selection in genetics studies and understanding the molecular basis of dis...

Study of Cytochrome P450 1A1 (T3801C) Single Nucleotide Polymorphism in Patients with Breast Cancer in Mazandaran Province-Northern Iran

 Background: Breast cancer is the first leading cause of cancer-related death in women. Pesticides which are excessively used in northern Iran are one of the most important risk factors for breast cancer incidence. The cytochrome P450 1A1 (cyp1A1) is a key enzyme in xenobiotics metabolism and SNPs of its coding gene has been verified to be important in cancer susceptibility. The aim of thi...

Genotyping Analysis of rs1799989 Single Nucleotide Polymorphism in TYR Gene Region in the Population of Isfahan, Iran

Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...