Biomedical Informatics and Omics

Jose Marie Cordova
4 min readMar 23, 2021
Cogwheels in a machine

Imagine us human beings as a machine. A machine does many complex things. A machine is made up of multiple parts. But instead of looking at organs and their functions, we look at how each molecule operates in us.

What is Omics?

This is what Omics is. Omics is the study of collection of collections of biomolecules that makes a living thing. It aims to understand the role of each parts in the bioprocesses. It’s like a holistic look on a person’s being.

The suffix -ome groups certain things together while -ics refers to sciences, disciplines, or any subject matters that are relevant to the root word.

The parts and their roles are as follows:

Genomics

Genomics is the study of genomes. Genome, contains the word genes so you guessed it, is a collection of genes.

Genes contain the coding instructions for a function or what protein to create indirectly. Genes are found inside our DNA. DNA is a sequence of nucleotides A, G, C, and T.

Studying genomics involve decoding the DNA sequence. It tries to look for pattern on how and why different traits arise. In a medical perspective, by reading DNA, scientists and researchers may be able to tell what kinds of diseases a person is vulnerable to. Additionally, their DNA may also tell how it protects itself from such conditions. DNA may also take part in drug development.

Transcriptomics

DNA does not directly make protein; it uses some intermediates. This intermediate is RNA. It is made from the process of copying a single strand of DNA or known as transcription.

Transcription yields RNAs so transcriptome is a collection of RNA. Therefore, transcriptomics is the study of transcriptomes.

When a person suffers from a disease, their transcriptome changes. When it changes, ribosomes synthesize unusual proteins. These proteins may not act as they are expected.

With the help of of transcriptomics, reading RNA sequence may shed light on what possible proteins may show up and if these proteins are as intended. A broken RNA may also signal a gene mutation, following the logic of central dogma.

Proteomics

In the translation process of central dogma, RNAs from transcriptome creates proteins. The proteins they create make up the proteome.

During sickness or abnormalities, the body releases protein. These proteins are called biomarkers. These biomarkers may sometimes indicate something’s wrong with someone’s health.

Modern drugs target proteins. They either synthesize more of such or limit its production. These drugs help the body create proteins that will help fend itself or it may also find a way to prevent further destruction. However, not all drugs work to everyone in the population; some triggers adverse reactions. Which puzzles scientists, why? Is there something specific to groups that causes their bodies to react that way?

By understanding how each drug responds to individuals, pharmacologists may develop a more precise and more accurate drugs that uses a patient’s DNA as basis.

Epigenomics

Like human beings, our bodies may also commit spelling mistakes and these lead to mutations. Mutations can happen every minute. Environment, stress, and lifestyle catalyze these mutations.

Luckily for our DNA and our immune system, they are quite adept in finding mistakes and correcting it, either by replacement or by cell extermination. Sometimes, though, these mechanisms brush the minute changes (or Single-Nucleotide Polymorphism) off, especially if it doesn’t affect our lives much. The problems are when the mutation goes out of hand and it starts taking over the body.

The epi- prefix means above, around, or nearby. Epigenetics takes not only the DNA, but also the protective protein of the DNA called histones. The modifications in an epigene are grouped in an epigenome and studied through epigenomics.

In epigenomics, the set of mutations and their effects are scrutinized. They also look for patterns that may signal if the mutations will stay permanently to be passed down or is only for a short amount of time.

Metabolomics

Metabolites are biomolecules that serve functions to help us survive, e.g. “fuel, structure, signalling, catalytic activity, defence and interactions with other organisms”. A metabolome is a set of metabolites and metabolomics revolve around metabolomes.

Our diet has a direct effect to our metabolome. A change in our metabolome also creates a change in the metabolites.

A person’s health can be measured by looking at the intricacies of their metabolomes.

Microbiomics

We do not live alone. Microbes lives and dies with us; most of the time, even outliving us. They are found in almost every part of our body. Do not fret for they pose no harm. They just want to live with us. What they need to live are found in us and what they produce is what we need to live: mutualism. Hence, they are vital in our existence.

These naturally occurring communities are called biome and for microbes it is called a microbiome. Studying them is called microbiomics.

The microbes in our gut controls our diet which leads us to our metabolomes. Together with metabolomics, researching our microbiomes may show what biomolecules or proteins each microbe may synthesize and how these byproducts affect our health.

Goals of Omics

The data in all aspect of omics seems overwhelming to scientists. Collecting them requires huge amount of storage. Managing them also imposes complexities.

The real challenge is how to analyze them and find a statistically significant correlation across data sources.

The introduction of omics gave scientists and researches leverage by using information technology and computer science in solving the challenges.

Through the use of omics, the goal of creating a personalized medicine that shifts the paradigm from treating existing diseases to early diagnosing and preventing them may come to fruition.

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Jose Marie Cordova

Mostly for Health Informatics and Bioinformatics assignments. But I’ll write whatever I feel writing.