Genomics: the science of studying our code of life

A genome is the collective set of an organism’s genetic material, which is composed of DNA (deoxyribonucleic acid).

Genomics is the study of genomes, including methods for DNA sequencing and data analysis. Genomics differs from genetics in its big data aspect. Genetics typically involves sequencing and studying targeted genes and their roles in inherited traits. The sequencing and analysis of entire genomes pose significantly different technical and computational challenges from those met in genetics, which is why genomics is distinguished.

Common applications of genomics include the identification of putative genes or mutations throughout a genome. Analysis of mutations allows the identification of genetic markers of diseases like cancer. These genetic variations can be correlated with phenotypic traits by comparing genomic sequences between groups. This approach is known as Genome-Wide Association Studies (GWAS).


Types of genome sequencing

The three main types of genome sequencing are Targeted, Whole-exome, and Whole Genome Sequencing.

  • Targeted Sequencing

Targeted sequencing provides us with both high coverage and an in-depth look at what’s happening within a specific region. Such localized sequencing might be useful if you wanted to identify mutations that you suspect lead to a particular disease such as cancer. Targeted sequencing works best with between 40 to 400 genes. It is ideal for looking closely at small, specific regions of the genome. It provides high coverage of a gene and allows us to see single base variations, such as insertions and deletions. Targeted sequencing also generates a smaller amount of data, potentially allowing for easier analysis than some of the larger-scale sequencing techniques.

milestones of genomics

Milestones in the development of DNA techniques and genome sequencing

  • Whole Exome Sequencing

In order to examine genomic DNA on a larger scale, one can perform whole-exome sequencing, that focuses on protein-coding genes. Whole-exome sequencing allows us to see all the gene variations; from single point variations to different insertions and deletions. While its coverage is lower than targeted sequencing, it provides more information about the coding regions of a genome.

Whole exome sequencing has generated most of the genomic data that we have today. 

  • Whole Genome Sequencing

Whole-genome sequencing gives us the broadest view of a genome sequence. One benefit of whole-genome sequencing is that it allows us to see both the coding gene sequences and the non-coding regions, providing us with more information about the information within a genome. While ~98% of our genome does not code for functional proteins, these non-coding sequences are now believed to be essential for the regulation of gene expression.


Genomics training by OmicsLogic

OmicsLogic Genomics is an online bioinformatics training program by Pine Biotech that provides an in-depth overview of concepts and analytical tools used to study genomic variation. The program is designed to introduce students, clinicians, and researchers to the role and the applications of Genomic Data Analysis to study genomic variation and apply genomics in translational sciences to improve diagnostic accuracy, predict which drugs are likely to be effective in patients, and contribute to the monitoring, treatment, and diseases in individuals and populations.

Are you interested in learning more about genomics?

Get started with the OmicsLogic Genomics training program. An asynchronous mentor-guided project-based course designed by the experts at Pine Biotech. Also, get a unique hands-on learning experience with the help of the server.

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