![]() Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-genome sequencing (WGS), whole-exome sequencing (WES) and multi-gene panels. This chapter encompasses revised concepts, applications, advances, limitations and the history of technological advances until the emergence of NGS technique in the era of precision medicine, starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms, sequencing chemistries methodology and general workflows. Thanks to second-generation sequencing technologies, it has become easier to sequence the expressed genes (‘transcriptomes’), known exons (‘exomes’) and complete genomes of patient’s samples. One of the major near-term medical impact of the NGS revolution will be the elucidation of mechanisms of human pathogenesis, leading to improvements in the diagnosis and the selection of treatment and prevention. A great challenge will be the interpretation of this great number of data and its translation for the medical application. Among the available NGS applications, one of them will be the resequencing of the human genome and the better genetic understanding of various human diseases. The NGS allows producing millions of data with a smaller investment. The emergence of NGS has changed the way clinical research, basic and applied science are done. NGS allows identifying biomarkers for early diagnosis as well as for personalized treatments. In recent times, Sanger sequencing, referred to as a ‘first-generation’ sequencing method, has partly been replaced by ‘next-generation’ sequencing (NGS) methods. There is a great deal of investment nowadays in prevention using these new technologies, as opposed to old medicine based on treatment since the disease was already evident or irreversible. Precision medicine redefines the way traditional medicine is practised. Īs a result of the genome project, many molecular tools have been developed and allow medical and scientific groups to improve patient management based on a better understanding of disease biology, providing a more specific and accurate prevention and treatment of diseases. It is estimated that about 75 billion US dollars per year (30% of health care expenditure) are destined for unnecessary or ineffective treatments in the USA. Statistics indicated that traditional clinical practices sometimes lead to poor health outcomes and also a waste of medical resources. The molecular knowledge has contributed strongly to the advancement of precision medicine, providing specific strategies for target therapies and diagnosis of patients with cancer, Mendelian diseases and others. Precision medicine is a new way of practising medicine, which has been gaining strength in recent years, is based on the individual characteristics of each patient (genetic, environmental, behavioural) to optimize and customize strategies for prevention, detection and therapy. A centralized chapter describing the main NGS aspects in the clinic could help beginners, scientists, researchers and health care professionals, as they will be responsible for translating genomic data into genomic medicine. The potential use of NGS in precision medicine is vast and a better knowledge of this technique is necessary for an efficacious implementation in the clinical workplace. Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-exome sequencing (WES), whole-genome sequencing (WGS), custom panels (multi-gene), RNA-seq and epigenetic. This chapter attempts to review the main features of NGS technique (concepts, data analysis, applications, advances and challenges), starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. The relatively fast emergence and success of NGS in research revolutionized the field of genomics and medical diagnosis. Next-generation sequencing (NGS) technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. ![]()
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