Bioinformatics is the study of life phenomena using theoretical physics, computational, statistical, and mathematical tools to obtain useful knowledge from large amounts of data from organisms. since 2010, sequencing technology has advanced rapidly. This made it easier to decipher and analyze genomes, transcriptomes, etc., and thus the diversity of omics data, increased. The data of these various omics is called multiomics and is the core of bioinformatics big data.
Next Generation Sequencing (NGS) is a technology that breaks down the genome into countless pieces and reads each piece simultaneously. After reading small pieces, a specific algorithm is applied to quickly decode a large amount of genomic information. NGS technology is applied to various fields such as diagnosis of rare-disease, oncology and microbiome.
Genomics is a comprehensive study that precisely deciphers encoded genome and reveals biological mechanisms based on this data. Human genome sequences have been solved through the human genome project. But finding out what information each gene plays and what role it takes requires a lot of effort and research. Among them, rare diseases are caused by loss of gene function due to lethal genetic mutations. We try to accumulate, analyze and manage data on these variants and apply them to diagnosis and treatment.
NIPT is a test that can detect fetal chromosomal abnormalities by analyzing the fetal DNA in pregnant women's blood using NGS technology. The amniotic fluid test, which tests for existing chromosomal abnormalities, is a dangerous test with a miscarriage rate of 1%. Compared to amniocentesis, NIPT is a very safe and accurate test. Due to the increase in childbirth at a later age, it is important to identify and cope with fetal abnormalities through genetic tests of prenatal fetuses.
NGS is contributing to the development of targeted anticancer drugs based on companion diagnosis in the field of Oncology. Targeted anticancer agents can sequence cancer cells, find mutations in genes unique to cancer cells, and administer anticancer agents that target them, thereby reducing side effects and treating cancer efficiently. In addition to targeted anticancer drugs, the development of NGS is attempting to define the type through cancer genome analysis and apply the appropriate treatment.
Targeted therapies, emerging as new chemotherapy in Oncology, are known to optimize the prognosis of patients. These targeted therapies are only possible if NGS-based companion diagnosis is required. Companion diagnosis using NGS is a method of treating cancer cells by sequencing and administering a target anticancer agent.
Metagenomics does not identify each microorganism by separating and culturing it in a sample, but instead analyzes the genome of the microbial community as it is. Existing methods for analyzing the genome of microorganisms were limited only to microorganisms that can be cultured. However, Metagenomics can derive meaningful results from the genomic information of the microbial community. Through this, the discovery of new strains or the role of bacteria can be found.