Science & Technology
Behind Next Generation Sequencing - The NGS sequencing method (ITA)
88 views
As Danilo unveils the potential of NGS technologies, he also touches on the future prospects and challenges, providing a glimpse into what the coming years might hold for the field of genomic research. Explore the fascinating world of advanced genomics, and grasp a better understanding of the intricate sequencing processes that are shaping the future of medical science.
View transcript
We have been chosen as a partner of the Domino project for our know how in the field of sequencing. We are a sequence laboratory of the NGS type. We have been available for many years cutting-edge equipment for the sector. Normally we are involved in research projects and of development, giving support to companies or institutions Of research that needs these details capacity, also to develop new types of protocols and compare them with standard protocols or with something that already exists. Sequencing means Reading a nucleic acid you have of DNA RNA and understanding them the base composition adenine, guanine, cytosine. With this little alphabet In reality, a lot of information is built complex ones that are usually associated to some characteristics of the cell or of the population of cells or of the tissue and therefore may be relevant for some cases unfortunate, such as the onset of tumors. The determination, therefore, also of possible predispositions for tumors. It's all about anyway of a multidisciplinary approach in which the activity Sequencing is one of the phases On which we then collaborate with doctors sector specialists or even analysis specialists of the data. A panel is needed to select The type of area of the genome that we want go and sow. In fact, the panel selection is upstream of sowing. This way I don't need to sow the whole genome, but by virtue of the panel I'm using, I focus only on a certain area that then it will be of interest to me. This therefore allows me To optimize my sequencing ability to obtain more sequences or to sequence more individuals. It's a bit like the difference of having a book in which both the index and the possibility To jump directly to a page of interest compared to Dover Read the book every time from the first to the last page. Next-generation sequencing is a mechanism that allows To read at the same time lots of fragments of these nucleic acids. An event of massive parallelization So it allows us to carry out in a single reading even very large sequences. We are now able to sequence an entire genome with a single run, even more genomes simultaneously and vice versa. If we want focus on a specific area of the genome, Can we read this area for so many patients. In practice, the capacity to open this information in a parallel way and be able to access it much more quickly. When do you test new ones protocols it is always necessary to have a comparison with a test with a consolidated that It is normally called the gold standard. So every Every time I program a new kit or a new protocol Is it common to treat the same sample with what is the standard test, which maybe it can also require more resources, last longer, So have a longer execution time compared to the new test to verify that this new test does not lose what are ours fundamental objectives, that is, the quality of the result, the reliability of the result and the capacity Above all, to identify the reason why the test comes carried out. Even a test that has the exact same Result capacity can be interpreted from different points of view. It takes less time to do it, it costs less and requires less or less activity to the operator. They are all interpretive sides that are not always considered in the field of research, but which are fundamental instead for the industry and for economic enhancement of the test. The different activities are They compete for the champion Starting if I take a sample from a patient and tissue removal, I'll take the sample. This same sampling may be for biology techniques. molecular used for different types of tests. Some of these tests. They often require To fix the starting fabric and this is a normal procedure for hospitals, But what makes the champion less compatible with our downstream procedures, so Are we basically two alternatives or involve more the patient, which would mean taking two samples or two biopsies and assign one to a series of processes and one another, or search to optimize these methods so that the method that comes upstream, that is, the analysis usually of the tissue that requires fixation on the slide, is in some way compatible with our method, which usually comes requested downstream. Because although the next generation sequencing is becoming widespread, However, it is certainly more elaborate and expensive of the classics. The basic test of screening that hospitals are required to do. This is why we are always trying to collaborate in the development of these new Tests that are compatible with a treatment that comes from a different molecular biology experiment. AND one of these treatments is the inclusion in blocks Of paraffin or other material that are needed precisely for histological tests that normally hospitals are taking samples. In the structure of the project we intervene to give support with tools and knowledge To what are the objectives of some of the members of the consortium that carries on the project. So we have equipment the ability to use instrumentation suggestions on, for example, the use of cold standards on some types of instrumentation compared to what It is then the objective of the project. The route Of sequencing is only one of the phases of the analysis of the data. Through NGS, so we receive material extracted from the hospital, let's process this material and put it inside a sequencing machine. Reading the data of the machine proposed precisely because of its characteristic. A very big, difficult fact to manage and not well organized. So we generate the data With the actor sequences but this data ends up inside of a usually a team of Data Scientists Which produce the algorithms if they are not available to reorganize the data. Although it's already there The information of our question, we must find the way to convey it in a way that is usable for the clinician. So there's a whole part related to how show the data obtained, why more the usability of the data is simple, the more this process is not broken and uninterrupted, maybe it gets even faster and so The shorter the time that elapses between the question Clinic posted by the doctor To the answer that the laboratory gives to the doctor obviously within the parameters of possibility of the type of test carried out. Some lessons from this project were unexpected for example The the need to find a common language method for professionalism coming from different sectors. This is because the characteristics and language The language of the clinic is not the same as the laboratory and the language of the laboratory is not strictly the same Language of data scientists or of those who develop The software you need to have this for how common meeting point on a single The goal was probably one of the strengths of this Of this project that despite the period Of the pandemic in which the project had Had the course required a squeeze collaboration with the various partners precisely by virtue of the different types of language but also of different types Of skills so also a possibility to divide the same problem from a perspective Which is not usually the one we face but maybe with subsequent steps. The truth is that The technological leaps are completely Unexpected so a big jump Technological will involve if I have to project myself into science fiction in ten years in a situation in a vision that at this moment We don't even think So I don't believe to a technological leap development that is a mere. Of what we have. For me The real technological leap is what the game is called changer, something that changes The perspective is that it is so brilliant that no one actually he still found it. I hope someone is preparing, always hoping that this will lead us to a better quality of life.