Many mutations are thought to influence the splicing mechanism by affecting the existing splice sites or creating a new sites.
A number of SNPs are observed in the non-coding, intronic regions and play a role in the regulation of genes, which may or may not directly impose an effect on the protein expression. Some of them include Human Splicing Finder (HSF), Exonic Splicing Enhancer Mutation taster, and others. Till now several online tools have been developed to analyze the genomic, transcriptomic, proteomics, epigenomics and metabolomics data. The data stored in these databases is used as reference for experimental evaluation and validation. With the help of bioinformatics, the experimental data generated is stored in several databases available online like nucleotide database, protein databases, GENBANK and others. It is a science which gathers the information from biology in terms of molecules and applies the informatic techniques to the gathered information for understanding and organizing the data in a useful manner. 3School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Indiaīioinformatics is an amalgamation of biology, mathematics and computer science.2Institute of Human Genetics, University of Jammu, Jammu, India.
1Advanced Centre for Human Genetics, Sher-I- Kashmir Institute of Medical Sciences, Soura, India.Rasool Bhat 1, Itty Sethi 2, Bilal Rah 1, Rakesh Kumar 3 and Dil Afroze 1*
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