Bhat Gh Rasool, Sethi Itty, Rah Bilal, Kumar Rakesh, Afroze Dil
Advanced Centre for Human Genetics, Sher-I- Kashmir Institute of Medical Sciences, Soura, India.
Institute of Human Genetics, University of Jammu, Jammu, India.
Front Genet. 2022 May 18;13:865182. doi: 10.3389/fgene.2022.865182. eCollection 2022.
Bioinformatics is an amalgamation of biology, mathematics and computer science. 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. With the help of bioinformatics, the experimental data generated is stored in several databases available online like nucleotide database, protein databases, GENBANK and others. The data stored in these databases is used as reference for experimental evaluation and validation. Till now several online tools have been developed to analyze the genomic, transcriptomic, proteomics, epigenomics and metabolomics data. Some of them include Human Splicing Finder (HSF), Exonic Splicing Enhancer Mutation taster, and others. 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. Many mutations are thought to influence the splicing mechanism by affecting the existing splice sites or creating a new sites. To predict the effect of mutation (SNP) on splicing mechanism/signal, HSF was developed. Thus, the tool is helpful in predicting the effect of mutations on splicing signals and can provide data even for better understanding of the intronic mutations that can be further validated experimentally. Additionally, rapid advancement in proteomics have steered researchers to organize the study of protein structure, function, relationships, and dynamics in space and time. Thus the effective integration of all of these technological interventions will eventually lead to steering up of next-generation systems biology, which will provide valuable biological insights in the field of research, diagnostic, therapeutic and development of personalized medicine.
生物信息学是生物学、数学和计算机科学的融合。它是一门从分子层面收集生物学信息，并应用信息学技术对所收集信息进行处理，以便以有用的方式理解和组织数据的科学。借助生物信息学，生成的实验数据存储在多个在线数据库中，如核苷酸数据库、蛋白质数据库、基因库等。存储在这些数据库中的数据用作实验评估和验证的参考。到目前为止，已经开发了几种在线工具来分析基因组学、转录组学、蛋白质组学、表观基因组学和代谢组学数据。其中一些工具包括人类剪接查找器（HSF）、外显子剪接增强子突变检测工具等。在非编码内含子区域观察到许多单核苷酸多态性（SNP），它们在基因调控中发挥作用，这可能直接或不直接影响蛋白质表达。许多突变被认为通过影响现有的剪接位点或产生新的位点来影响剪接机制。为了预测突变（SNP）对剪接机制/信号的影响，开发了HSF。因此，该工具有助于预测突变对剪接信号的影响，甚至可以提供数据，以便更好地理解内含子突变，这些突变可以通过实验进一步验证。此外，蛋白质组学的快速发展促使研究人员组织对蛋白质结构、功能、关系以及在空间和时间上的动态变化进行研究。因此，所有这些技术干预措施的有效整合最终将推动下一代系统生物学的发展，这将在研究、诊断、治疗以及个性化医疗开发领域提供有价值的生物学见解。
