EXOME SEQUENCE ANALYSIS USING COMPUTATIONAL TOOLS FOR CLINICAL DIAGNOSIS

Authors

  • Krupa Mehta Faculty of Computer Technology, GLS University, Ahmedabad.
  • Dr. Devarshi Mehta Faculty of Computer Technology, GLS University, Ahmedabad.
  • Dr. Vishal Dahiya Institute of Information and Communication Technology, Indus University, Ahmedabad.

Keywords:

exome sequencing, Mendelian, phenotypes, SNPs, indels, FASTQ, FASTA, BAM, SAM, VCF.

Abstract

All the pieces of an individual's DNA that provide instructions for making proteins are known as exons. A collection of all the exons of a genome is known as exome and the process to sequence these exomes are known as whole exome sequencing. To predict any disease, the exome sequencing analysis focuses on some common steps that are discussed in this paper. Many tools are available to accomplish the task of each step.

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Published

2021-11-16

How to Cite

Mehta, K., Mehta, D. D., & Dahiya, D. V. (2021). EXOME SEQUENCE ANALYSIS USING COMPUTATIONAL TOOLS FOR CLINICAL DIAGNOSIS. International Journal of Technical Innovation in Modern Engineering & Science, 4(6), 687–691. Retrieved from https://ijtimes.com/index.php/ijtimes/article/view/1672

Issue

Vol. 4 No. 6 (2018): Vol. 4 No. 6: Volume 4 Issue 6 (June-2018)

Section

Articles