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Obstetrics and Gynegology2022№12
Prospects for using exome sequencing...

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

DOI
https://dx.doi.org/10.18565/aig.2022.221

Glotov O.S., Chernov A.N., Glotov A.S., Baranov V.S.

1) D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology, Saint Petersburg, Russia; 2) Pediatric Research and Clinical Center for Infectious Diseases, Federal Biomedical Agency, Saint Petersburg, Russia
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

Keywords

NGS
whole genome sequencing
exome
predictive medicine
clinical genetic passport
monogenic diseases
Full text (in Russian)

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Received 19.09.2022

Accepted 11.11.2022

About the Authors

Oleg S. Glotov, PhD, Senior Researcher at the Department of Genomic Medicine, D.O. Ott’s Research Institute Institute of Obstetrics, Gynecology, and Reproductology, 199034, Russia, Saint-Petersburg, Mendeleevskaya line, 3; Head of the Department of Experimental Medical Virology, Molecular Genetics and Biobanking, Pediatric Research and Clinical Center for Infectious Diseases, 197022, Russia, Saint-Petersburg, Professor Popov str., 9, olglotov@mail.ru, https://orcid.org/0000-0002-0091-2224
Alexander N. Chernov, PhD, Researcher at the Department of Genomic Medicine, D.O. Ott’s Research Institute Institute of Obstetrics, Gynecology, and Reproductology, al.chernov@mail.ru, https://orcid.org/0000-0003-2464-7370, 199034, Russia, Saint-Petersburg, Mendeleevskaya line, 3.
Andrey S. Glotov, Dr. Bio. Sci, Head of the Department of Genomic Medicine, D.O. Ott’s Research Institute of Obstetrics, Gynecology, and Reproductology,
anglotov@mail.ru, https://orcid.org/0000-0002-7465-4504, 199034, Russia, Saint-Petersburg, Mendeleevskaya line, 3.
Vladislav S. Baranov , 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, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, +7(921)337-77-96, vsbar40@mail.ru, 199034, Russia, St. Petersburg, Mendeleevskaya line, 3.
Corresponding author: Oleg S. Glotov, olglotov@mail.ru

Authors’ contributions: Glotov O.S., Glotov A.S. – writing the text; Chernov A.N., Baranov V.S. – editing.
Conflicts of interest: The authors declare that there are no conflicts of interest.
Funding: The investigation has been supported by the Ministry of Science and Higher Education of the Russian Federation (“Multicenter Research Collection of Bioresources “Human Reproductive Health”” Project; Contract No. 075-15-2021-1058 dated September 28, 2021).
For citation: Glotov O.S., Chernov A.N., Glotov A.S., Baranov V.S.
Prospects for using exome sequencing to solve problems in human reproduction (Part I).
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2022; 12: 34-39 (in Russian)
https://dx.doi.org/10.18565/aig.2022.221

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