The technology available for sequencing genomes has given a dramatic leap in the past years, as it is advancing every month. From the development of the latest next-generation sequencing methods (NGS), we have gone from needing years to sequence a complete genome to being able to do in a question of hours. However, it is still complicated to carry out the sequencing of a complete genome mainly due to the fact that the information obtained is excessively large. In addition, on many occasions, in order to facilitate the analysis, the studies of the patient are approached as a trio, in which both parents are also analysed. However, this also increases the cost of the test.
In order to solve these problems, the adopted solution is often to sequence the gene panels related to the patient’s symptomology. In this sense, the analysis is simplified for a number of reasons:
(a) Genetic counselling is much simpler, as all the discoveries are related to the pathological condition of interest.
(b) The probability of unknown significant alterations appearing is a lot less.
(c) When sequencing a smaller amount of nucleotides, a larger coverage can be achieved which means there are less false positives.
(d) We obtain a smaller amount of data which means there is a lower need for infrastructure for bioinformatics.
(e) We avoid casual discoveries.
For all of these reasons, the gene panel sequencing is usually the preferred approach to study complex diseases. In order to offer the best service possible, at Bioarray we have an increasingly growing catalogue with the offered panels, which are constantly under development. In addition, we have the possibility to produce personalised sequencing panels. Please ask us and our technical service will be happy to help you.
Bioarray offers services of next-generation sequencing by means of an Ion Personal Genome Machine® (PGM™) sequencer. This machine allows us to obtain a large volume of high-quality day in a quick an economic manner.
The Ion Personal Genome Machine® (PGM) has the advantage of combining semiconductor sequencing technology with natural biochemistry, avoiding the need to resort to complex and expensive optical systems. In this manner, we offer a natural, flexible and scalable chemical sequencing. The essential component of the Ion Personal Genome Machine® is its sequencing chip system that incorporates more than one million micro-machined wells. Each well will contain different DNA templates, offering a next-generation sequencing in parallel with a large scale capacity.
The system seems simple. First of all, we obtain individual molecules of DNA in a microscopic mesh inside the chip. Afterwards, the PGM synchronically presents each one of the nitrogenous bases that make up the DNA (A, T C or G), in a way so that the incorporation of the chains in the formation of each of those nucleotides will generate a minimum variation of pH in the implicated well. This variation of pH is identified in the system of each independent well, with an independent DNA molecule (similar or different) and registered for sequencing.
Finally, the bioinformatic algorithm will be able to align the sequences (thousands, even millions of them, according to the capacity of the chip used) and search for possible alterations with regard to the human consensus sequencing. Its simple technology leads to a direct sequencing of the DNA, making the quickness of the process an obvious fact, as it allows the incorporation of each nucleotide to be registered in seconds.