Sequencing a DNA molecule involves determining the order arrangement of the four nucleotides (A,G,C and T) that form the molecule.
The entire sequencing of the first human genome was achieved in 2003 after 12 years of scientific work by hundreds of researchers from all over the world and an approximate cost of 3,000 million dollars. Just 15 years later, and thanks to the notable advances in sequencing technologies (next-generation sequencing technology-NGS), both time and cost radically reduced, and the entire human genome can now be sequenced within days at much cheaper prices.
The dramatic reduction in costs associated with sequencing has meant the introduction of these sequencing technologies has not only been possible in research projects, but also in clinical practice. The usefulness of NGS technologies lies in its ability to identify differences (“genetic variants”) between the genome of a sequenced (individual) sample and the sequencing of a reference human genome.