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International Journal of Computer Engineering & Technology (IJCET)
Volume 8, Issue 5, Sep-Oct 2017, pp. 54–66, Article ID: IJCET_08_05_007
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ISSN Print: 0976-6367 and ISSN Online: 0976–6375
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A REVIEW ON BIOCOMPUTING APPROACHES
AND TOOLS FOR IDENTIFICATION OF
SINGLE NUCLEOTIDE POLYMORPHISMS
Neelofar Sohi
Assistant Professor, Department of Computer Engineering,
Punjabi University, Patiala, India
Amardeep Singh
Professor, Department of Computer Engineering,
Punjabi University, Patiala, India
ABSTRACT
Single Nucleotide Polymorphisms (SNPs) are the most common source of genetic
variations. There has been enormous research in the area of Biocomputing and
Bioinformatics on identification and analysis of SNPs. A large number of methods
have been developed for their identification ever since the importance of SNPs in
understanding of diseases emerged with the completion of Human Genome Project.
This paper reviews Single Nucleotide Polymorphisms, their importance, their
association to diseases, Biocomputing approaches and tools available for their
identification up to 2017.
Key word: Single Nucleotide Polymorphisms, SNPs, Biocomputing, Genetic
Variations, SNP identification.
Cite this Article: Neelofar Sohi and Amardeep Singh, A Review on Biocomputing
Approaches and Tools for Identification of Single Nucleotide Polymorphisms.
International Journal of Computer Engineering & Technology, 8(5), 2017, pp. 54–66.
http://www.iaeme.com/ijcet/issues.asp?JType=IJCET&VType=8&IType=5
1. INTRODUCTION
There occurred a major breakthrough in the history of genetics with completion of the Human
Genome Project (HGP). HGP, the world’s largest international collaborative research project
was founded in 1990 by the US Department of Energy and the National Institute of Health
(NIH), which aimed at complete human genome sequencing. The project completed in 2003,
sequencing the human genome’s 3.3 billion base pairs and revealed that there are about 20,
500 human genes. The valuable information furnished by HGP opened new avenues for
understanding of diseases, genetic basis and genetic variants responsible for the diseases. This
understanding of connection between sequence variations and phenotype can lead to better
diagnosis, prevention and treatment of diseases [1]. The sequence analyses show that 99% of