Bioinformatic Analysis

General Description

Bioinformatic analysis is a procedure in which computational and statistical processes are used to collect and analyze biological information. In the field of genetics, DNA, RNA, and protein sequences are studied. The data obtained through bioinformatics allow for a better understanding of the behavior of the human genome and its influence on both human health and disease.

Thanks to advances in bioinformatics, it is possible to compare sequences from different organisms to evaluate their function and how they have evolved over time. In medicine, bioinformatic analyses provide the opportunity to design personalized treatments that are more effective against specific pathologies in a given individual.

When is it indicated?

Bioinformatic analyses are a useful tool for expanding knowledge about the evolution of life on Earth. In genetics, they are used to identify the function of genes and proteins and, after understanding their evolutionary processes, to predict their structures.

In addition to expanding the field of personalized medicine, bioinformatics provides useful tools for developing gene therapies (based on the transfer of genetic material into the patient’s cells) and for diagnosing rare diseases. In the latter case, bioinformatic reanalysis of the clinical exome (genetic sequencing of the coding regions of genes) after a previously negative result has improved diagnostic yield. Furthermore, bioinformatic processes are capable of detecting small insertions or deletions.

How is it performed?

Patient DNA samples are obtained through blood or saliva collection.

Bioinformatic analyses consist of several phases, as it is necessary to begin with data acquisition, followed by analysis, and finally interpretation. In most cases, a process similar to the following is carried out:

• Collection: Genomic data are obtained from multiple patients or from already organized public databases. To obtain patient data, next-generation sequencing (NGS) techniques are commonly used, providing information on a large number of genes in a short period of time.
• Preparation: Raw data are cleaned to remove errors or incorrect entries. The objective is to work exclusively with high-quality genetic sequences.
• Alignment: This procedure involves comparing DNA or RNA sequences with a standardized reference to detect or rule out genetic mutations.
• Analysis: If genetic variations are identified, they are studied to assess their possible association with disease.
• Interpretation and annotation: This step helps to understand the biological impact of a variation and how it affects the individual (predisposition to certain pathologies or changes in gene expression, which is the process by which cells produce the molecules they need for survival).
• Functional analysis: To understand how these genetic variants may influence biological function, gene expression, and predisposition to disease.

The use of computational technology allows information to be encoded into various file types with different extensions and formats adapted to different types of analysis. Bioinformatics benefits from computational speed, which also reduces errors associated with manual analysis.

Risks

Bioinformatic analyses do not pose any risk to the patient’s health.

What to expect from a bioinformatic analysis

Sample collection takes only a few minutes, and the patient can resume normal activities immediately.

• Blood sample: While seated with the arm extended, a tourniquet is placed above the elbow while the patient clenches their fist. Once the needle is inserted into the vein—at which point slight discomfort may be felt—the patient relaxes the hand and the tourniquet is released to allow blood flow. In these cases, sterile tubes with a purple cap are used, containing a substance (EDTA) that delays coagulation.
• Saliva sample: After lightly biting the inner cheek, the patient opens their mouth so that the specialist can collect saliva by rubbing with a cotton swab attached to a stick. The sample is transported to the laboratory in a sterile container at room temperature.

Results may take a variable amount of time, depending on the complexity of the analysis performed.

Specialties in which bioinformatic analyses are requested

Genomic bioinformatic analyses are performed within the specialty of Genetics.