Chang Hsueh-Wei, Yang Cheng-Hong, Chang Phei-Lang, Cheng Yu-Huei, Chuang Li-Yeh
Faculty of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Taiwan.
BMC Genomics. 2006 Feb 17;7:30. doi: 10.1186/1471-2164-7-30.
The restriction fragment length polymorphism (RFLP) is a common laboratory method for the genotyping of single nucleotide polymorphisms (SNPs). Here, we describe a web-based software, named SNP-RFLPing, which provides the restriction enzyme for RFLP assays on a batch of SNPs and genes from the human, rat, and mouse genomes.
Three user-friendly inputs are included: 1) NCBI dbSNP "rs" or "ss" IDs; 2) NCBI Entrez gene ID and HUGO gene name; 3) any formats of SNP-in-sequence, are allowed to perform the SNP-RFLPing assay. These inputs are auto-programmed to SNP-containing sequences and their complementary sequences for the selection of restriction enzymes. All SNPs with available RFLP restriction enzymes of each input genes are provided even if many SNPs exist. The SNP-RFLPing analysis provides the SNP contig position, heterozygosity, function, protein residue, and amino acid position for cSNPs, as well as commercial and non-commercial restriction enzymes.
This web-based software solves the input format problems in similar softwares and greatly simplifies the procedure for providing the RFLP enzyme. Mixed free forms of input data are friendly to users who perform the SNP-RFLPing assay. SNP-RFLPing offers a time-saving application for association studies in personalized medicine and is freely available at http://bio.kuas.edu.tw/snp-rflp/.
限制性片段长度多态性(RFLP)是一种用于单核苷酸多态性(SNP)基因分型的常用实验室方法。在此,我们描述了一种基于网络的软件,名为SNP-RFLPing,它为来自人类、大鼠和小鼠基因组的一批SNP和基因的RFLP分析提供限制性内切酶。
该软件包含三种用户友好的输入方式:1)NCBI dbSNP的“rs”或“ss”ID;2)NCBI Entrez基因ID和HUGO基因名称;3)任何格式的序列中的SNP,均可用于进行SNP-RFLPing分析。这些输入会自动编程为包含SNP的序列及其互补序列,以选择限制性内切酶。即使存在许多SNP,也会提供每个输入基因所有可用RFLP限制性内切酶的所有SNP。SNP-RFLPing分析提供了SNP重叠群位置、杂合性、功能、蛋白质残基以及cSNP的氨基酸位置,以及商业和非商业限制性内切酶。
这种基于网络的软件解决了类似软件中的输入格式问题,并大大简化了提供RFLP酶的程序。混合的自由形式输入数据对进行SNP-RFLPing分析的用户很友好。SNP-RFLPing为个性化医疗中的关联研究提供了一种节省时间的应用程序,可在http://bio.kuas.edu.tw/snp-rflp/免费获取。