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Personalized medicine: the role of sequencing technologies in diagnostics, prediction and selection of treatment of monogenous and multifactorial diseases

机译:个性化医疗:测序技术在单基因和多因素疾病的诊断、预测和治疗选择中的作用

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The review highlights various methods for deciphering the nucleotide sequence (sequencing) of nucleic acids and their importance for the implementation of the three main principles of personalized medicine: prevention, predictability and personalization. The review, along with its own practical examples, considers three generations of sequencing technologies: 1) sequencing of cloned or amplified DNA fragments according to Sanger and its analogues; 2) massive parallel sequencing of DNA libraries with short reads (NGS); and 3) sequencing of single molecules of DNA and RNA with long reads. The methods of whole genome, whole exome, targeted, RNA sequencing and sequencing based on chromatin immunoprecipitation are also discussed. The advantages and limitations of the above methods for diagnosing monogenic and oncological diseases, as well as for identifying risk factors and predicting the course of socially significant multifactorial diseases are discussed. Using examples from clinical practice, algorithms for the application and selection of sequencing technologies are demonstrated. As a result of the use of sequencing technologies, it has now become possible to determine the molecular mechanism of the development of monogenic, orphan and multifactorial diseases, the knowledge of which is necessary for personalized patient therapy. In science, these technologies paved the way for international genome projects - the Human Genome Project, the HapMap, 1000 Genomes Project, the Personalized Genome Project, etc.
机译:审查突出的各种方法破解核苷酸序列(序列)的核酸和它们的重要性实现的三个主要原则个性化医疗:预防、可预测性和个性化。自己的实例,认为三种一代又一代的测序技术:1)测序克隆或放大DNA片段根据桑格及其类似物;平行测序DNA库较短读(门店);DNA和RNA分子与读取。全基因组的方法,全外显子组,有针对性的,根据染色质RNA序列测序免疫沉淀反应进行了讨论。上述方法的优点和局限性诊断单基因和肿瘤疾病,以及识别风险因素和预测的过程中社会意义重大多因子的疾病进行了讨论。从临床实践例子,算法的应用和选择排序技术演示。测序技术的使用,它现在已经成为可能的分子机制单基因的发展,孤儿和多因子的疾病,它的知识个性化的病人的药物治疗是必要的。科学,这些技术铺平了道路国际基因组项目——人类基因组人类基因组单体型图项目,1000人基因工程,个性化基因组计划等。

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