Next Generation Sequencing Analysis

Welcome to the Next Generation Sequencing Analysis group

Up until recently, sequencing was a laborious and slow process to determine genomic sequences. Due to the tremendous technological breakthroughs of the next generation of sequencing (NGS) in terms of speed, read length, and throughput, together with a steep reduction in the cost of sequencing a human genome, it has become an invaluable tool in biomedical sciences. This success stems from the unequaled versatility of NGS, facilitating the detection of gene and genome variations as well as changes in methylation, epigenetics as well as messenger RNA and microRNA expression levels with many more exciting applications being continuously developed. This versatility enabled NGS to become an invaluable tool for patient stratification, monitoring as well as predictions of disease outcomes, therapeutic responses and personalized treatments. It is now the major driving force for the discovery of disease susceptibility genes by identifying mutations causative or strongly associated with the disease. NGS thus helps to address both monogenic rare disorders as well as widespread multifactorial diseases.

Thus, the technology is currently on the verge of revolutionizing clinical diagnostics and enabling personalized medicine. The diagnosis, treatment and comprehension of human diseases will be dramatically improved in the immediate future of clinical practice, and a substantial proportion of the benefit for the patient and the society will be attributed to NGS and related techniques. Millions of new human exomes and hundreds of thousands human genomes will soon become available, thus, molecular biology entered the phase of Big Data through NGS. Success in biomedical research will depend on the know-how to use this wealth of information. The organization of data storage, analysis and interpretation, becomes a competitive edge for many research projects. But at the same time, the confidentiality, security of as well as the scientific accessibility of this personal data has to be ensured.