Prospects for using exome sequencing to solve problems in human reproduction (Part I)


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Abstract

The emergence of new genetic technologies is a key aspect of progress in the development of molecular medicine. These expand substantially genetic laboratory test options in clinical practice and cause changes in terminology. There has been a clear transition from the study of individual genes and their variants (mutations) to exome testing for the analysis of pathogenomics, to the search for biomarkers, to pre-symptomatic prevention and personalized treatment of various human diseases. The review (Part 1) presents the authors’ own and literature data on the use of next-generation sequencing (NGS) technology, exome sequencing, a genetic and clinical genetic passport, as well as the difficulties, features, and prospects for introducing new approaches to practical medicine. Conclusion: The development of the scientific foundations of precision medicine for the study, diagnosis, and treatment of monogenic diseases, as well as oligogenic, multifactorial, and infectious disorders, will be determined by the effectiveness of NGS technologies, by taking into account the current algorithms of analysis and the classical gene concepts of expressivity and penetrance

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About the authors

Oleg S. Glotov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology; Pediatric Research and Clinical Center for Infectious Diseases, Federal Biomedical Agency

Email: olglotov@mail.ru
PhD, Senior Researcher at the Department of Genomic Medicine

Alexander N. Chernov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: al.chernov@mail.ru
PhD, Researcher at the Department of Genomic Medicine

Andrey S. Glotov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: anglotov@mail.ru
Dr. Bio. Sci, Head of the Department of Genomic Medicine

Vladislav S. Baranov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: vsbar40@mail.ru
Dr. Med. Sci., Professor, Corresponding Member of the Russian Academy of Sciences, geneticist of the highest category, Chief Researcher of the Department of Genomic Medicine

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