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序列中SNP和插入缺失的工具、资源及数据库综述

Tools, resources and databases for SNPs and indels in sequences: a review.

作者信息

Seal Abhik, Gupta Arun, Mahalaxmi M, Aykkal Riju, Singh Tiratha Raj, Arunachalam Vadivel

机构信息

School of Informatics and Computing, Indiana University, Bloomington, USA.

School of Computer Science and Information Technology, Devi Ahilya Vishwavidyalaya (DAVV), Indore 452 013, India; Computational Biology Group, Abhyudaya Technologies, Indore 452 003, India.

出版信息

Int J Bioinform Res Appl. 2014;10(3):264-96. doi: 10.1504/IJBRA.2014.060762.

Abstract

Single Nucleotide Polymorphism (SNP) is a mutation where, a single base in the DNA differs from the usual base at that position. SNPs are the marker of choice in genetic analysis and also useful in locating genes associated with diseases. SNPs are important and frequently occurring point mutations in genomes and have many practical implications. In silico methods are easy to study the SNPs that are occurring in known genomes or sequences of a species of interest during the post genomic era. There are many on-line and stand alone tools to analyse the SNPs. We intend to guide the reader with the software details such as algorithmic background, file requirements, operating system specificity and species specificity, if any, for the tools of SNPs detection in plants and animals. We also list many databases and resources available today to describe SNPs in wide range of organisms.

摘要

单核苷酸多态性(SNP)是一种突变,其中DNA中的单个碱基与其在该位置的常见碱基不同。SNP是遗传分析中首选的标记,也有助于定位与疾病相关的基因。SNP是基因组中重要且频繁发生的点突变,具有许多实际意义。在后基因组时代,计算机方法便于研究在感兴趣物种的已知基因组或序列中发生的SNP。有许多在线和独立工具可用于分析SNP。我们打算向读者介绍用于动植物SNP检测工具的软件细节,如算法背景、文件要求、操作系统特异性和物种特异性(如有)。我们还列出了当今许多可用于描述广泛生物体中SNP的数据库和资源。

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