Journal of King Saud University: Science (Oct 2022)

Intersection of genomics and health informatics approaches in identification of diseases’ biomarkers

  • Raed Abdullah Alharbi

Journal volume & issue
Vol. 34, no. 7
p. 102264

Abstract

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Genomes are one of the most essential sensitive molecular biomarkers that are used to be discovered in a very small amount in a sample to identify a specific type of diseases. Since genomics is the science that studies structures, interactions, and functions of all genomes, genomics approach is used to identify genomes as diseases’ biomarkers. However, health informatics approach, especially bioinformatics, has a main rule in data analysis. The purpose of this review is to describe briefly the technologies and methods that are used in both genomics and health informatics approaches to identify these biomarkers. Therefore, this paper is based on a computerized database search. In genomics approach, after collecting samples, first start with extraction and purification of DNA to get a purified DNA that is extracted from the nucleus of cells. Then, DNA amplification is to produce many copies of a specific DNA sequence. Next is sequencing of DNA to determine and read the sequence of nucleic acid sequence in DNA. Once the DNA sequence is determined, the following procedure is the health informatics approach and called bioinformatics pipeline steps, which is DNA data analysis steps. Finally, there are several different techniques and methods of genomics approach to identify a genome as a disease’s biomarker. However, next generation techniques and methods whether extraction, purification, amplification, and sequencing of DNA or bioinformatics pipeline are more accurate, faster, and cheaper from other generation sequencing of genomic approach.

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