Genetic file

When saliva DNA is sequenced, a genetic file known as RAW data or genetic file is obtained.


A, T, G, C

These are nucleotides, i.e. small molecules synthesized by all living organisms, which are formed by the union of three elements: a nitrogenous base – which can be adenine (A), cytosine (C), guanine (G) and thymine (T) -, a simple sugar and a phosphate group.

DNA is composed of these molecules and, therefore, a DNA file can be AGTGCAAGGC…



The total sequence of DNA possessed by an organism. That is, its genetic material.

Not to be confused with the genetic code, which refers to the instructions contained in a gene that tell a cell how to produce a specific protein.

The genetic code, therefore, refers to how the A, T, G, C is interpreted.


GWAS – Genome Wide Association Study

A research approach used to identify genomic variants statistically associated with a disease risk or a given trait.

The method involves a genome-wide scan of many people looking for genomic variants that are more frequent in those with a specific disease or trait compared to those without the disease or trait.

Once these genomic variants have been identified, they are usually used to search for nearby variants that directly contribute to the disease or trait.


Polygenic risk

People have an average genetic risk of developing a disease or disorder and the polygenic score is used to calculate that risk marked by your genetics.

Your score may be higher than average, which means you have a higher risk of developing that disease or disorder.

Polygenic characteristics are those that are influenced by multiple genes, such as height or eye color. Because there are many genes involved, polygenic traits do not follow Mendelian inheritance patterns and many of them are also influenced by the environment.


Sequencing with Illumina

Illumina is the company of reference in the creation of microarrays, which are the surfaces on which DNA is sequenced, working on specific points of interest (up to 710,000).

These are known as SNPs or genetic variations.


DNA sequencing

It is performed from a sample of two milliliters of saliva, which contains cells that have been detached from our cheeks. DNA is extracted from them and sequenced on chips called microarray.


Genetic variation / SNP (Single Nucleotide Polymorphism)

Variation in DNA sequence, also known as genetic variation or genetic marker.