Innovative in Silico Approaches for Characterization of Genes and Proteins

被引:20
作者
Bhat, Gh. Rasool [1 ]
Sethi, Itty [2 ]
Rah, Bilal [1 ]
Kumar, Rakesh [3 ]
Afroze, Dil [1 ]
机构
[1] Sherikashmir Inst Med Sci, Adv Ctr Human Genet, Soura, India
[2] Univ Jammu, Inst Human Genet, Jammu, India
[3] Shri Mata Vaishno Devi Univ, Sch Biotechnol, Katra, India
关键词
Single nucleotide polymorphisms (SNPs); Human Splice finder (HSF); Next Generation Sequencing (NGS); in silico; bioinformatics; SINGLE NUCLEOTIDE POLYMORPHISMS; EXONIC SPLICING ENHANCERS; MASS-SPECTROMETRY; ENRICHMENT ANALYSIS; RNA-SEQ; DNA; SEQUENCE; GENOME; TOOL; IDENTIFICATION;
D O I
10.3389/fgene.2022.865182
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页数:20
相关论文
共 199 条
[1]   A pipeline that integrates the discovery and verification of plasma protein biomarkers reveals candidate markers for cardiovascular disease [J].
Addona, Terri A. ;
Shi, Xu ;
Keshishian, Hasmik ;
Mani, D. R. ;
Burgess, Michael ;
Gillette, Michael A. ;
Clauser, Karl R. ;
Shen, Dongxiao ;
Lewis, Gregory D. ;
Farrell, Laurie A. ;
Fifer, Michael A. ;
Sabatine, Marc S. ;
Gerszten, Robert E. ;
Carr, Steven A. .
NATURE BIOTECHNOLOGY, 2011, 29 (07) :635-U119
[2]   A method and server for predicting damaging missense mutations [J].
Adzhubei, Ivan A. ;
Schmidt, Steffen ;
Peshkin, Leonid ;
Ramensky, Vasily E. ;
Gerasimova, Anna ;
Bork, Peer ;
Kondrashov, Alexey S. ;
Sunyaev, Shamil R. .
NATURE METHODS, 2010, 7 (04) :248-249
[3]   Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries [J].
Aird, Daniel ;
Ross, Michael G. ;
Chen, Wei-Sheng ;
Danielsson, Maxwell ;
Fennell, Timothy ;
Russ, Carsten ;
Jaffe, David B. ;
Nusbaum, Chad ;
Gnirke, Andreas .
GENOME BIOLOGY, 2011, 12 (02)
[4]   Database independent proteomics analysis of the ostrich and human proteome [J].
Altelaar, A. F. Maarten ;
Navarro, Danny ;
Boekhorst, Jos ;
van Breukelen, Bas ;
Snel, Berend ;
Mohammed, Shabaz ;
Heck, Albert J. R. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (02) :407-412
[5]   A beginners guide to SNP calling from high-throughput DNA-sequencing data [J].
Altmann, Andre ;
Weber, Peter ;
Bader, Daniel ;
Preuss, Michael ;
Binder, Elisabeth B. ;
Mueller-Myhsok, Bertram .
HUMAN GENETICS, 2012, 131 (10) :1541-1554
[6]   Integrating common and rare genetic variation in diverse human populations [J].
Altshuler, David M. ;
Gibbs, Richard A. ;
Peltonen, Leena ;
Dermitzakis, Emmanouil ;
Schaffner, Stephen F. ;
Yu, Fuli ;
Bonnen, Penelope E. ;
de Bakker, Paul I. W. ;
Deloukas, Panos ;
Gabriel, Stacey B. ;
Gwilliam, Rhian ;
Hunt, Sarah ;
Inouye, Michael ;
Jia, Xiaoming ;
Palotie, Aarno ;
Parkin, Melissa ;
Whittaker, Pamela ;
Chang, Kyle ;
Hawes, Alicia ;
Lewis, Lora R. ;
Ren, Yanru ;
Wheeler, David ;
Muzny, Donna Marie ;
Barnes, Chris ;
Darvishi, Katayoon ;
Hurles, Matthew ;
Korn, Joshua M. ;
Kristiansson, Kati ;
Lee, Charles ;
McCarroll, Steven A. ;
Nemesh, James ;
Keinan, Alon ;
Montgomery, Stephen B. ;
Pollack, Samuela ;
Price, Alkes L. ;
Soranzo, Nicole ;
Gonzaga-Jauregui, Claudia ;
Anttila, Verneri ;
Brodeur, Wendy ;
Daly, Mark J. ;
Leslie, Stephen ;
McVean, Gil ;
Moutsianas, Loukas ;
Nguyen, Huy ;
Zhang, Qingrun ;
Ghori, Mohammed J. R. ;
McGinnis, Ralph ;
McLaren, William ;
Takeuchi, Fumihiko ;
Grossman, Sharon R. .
NATURE, 2010, 467 (7311) :52-58
[7]  
Amaral A., 2007, EMBRAPA DOCUMENTOS, P224
[8]   De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data [J].
Ameur, Adam ;
Che, Huiwen ;
Martin, Marcel ;
Bunikis, Ignas ;
Dahlberg, Johan ;
Hoijer, Ida ;
Haggqvist, Susana ;
Vezzi, Francesco ;
Nordlund, Jessica ;
Olason, Pall ;
Feuk, Lars ;
Gyllensten, Ulf .
GENES, 2018, 9 (10)
[9]   Single-Molecule Sequencing: Towards Clinical Applications [J].
Ameur, Adam ;
Kloosterman, Wigard P. ;
Hestand, Matthew S. .
TRENDS IN BIOTECHNOLOGY, 2019, 37 (01) :72-85
[10]   miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis [J].
Andres-Leon, Eduardo ;
Nunez-Torres, Rocio ;
Rojas, Ana M. .
SCIENTIFIC REPORTS, 2016, 6