EXOME SEQUENCE ANALYSIS USING COMPUTATIONAL TOOLS FOR CLINICAL DIAGNOSIS
Krupa Mehta
Faculty of Computer Technology, GLS University, Ahmedabad. , IN
Dr. Devarshi Mehta
Faculty of Computer Technology, GLS University, Ahmedabad. , IN
Dr. Vishal Dahiya
Faculty of Computer Technology, GLS University, Ahmedabad. , IN
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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