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Genetic testing in clinical laboratory diagnostics: Present and future
https://doi.org/10.33667/2078-5631-2023-23-65-70
Abstract
Authors discuss the current state and prospects for the development of genetic testing in clinical laboratory diagnostics, recent nucleic acids sequencing technologies, their advantages and applications. Although genome-wide association studies (GWAS) have become a standard practice in identifying SNPs to determine disease susceptibility, this approach has limitations. A novel approach is proposed: integrative genome-wide association analysis (iGWAS), which relies on gene expression information to investigate the associations between SNPs and disease phenotype. Numerous studies have shown that iGWAS can significantly facilitate the search for genetic correlations and is superior to a method that relies only on the search for SNPs. Genetic testing will facilitate the molecular-based reclassification of human diseases. Authors describe the technical aspects of nanopore sequencing, the development of an iPhone app to complement miniature sequencing devices, and the world’s first mobile genomic sequence analyzer, iGenomics.
About the Authors
S. N. Shcherbo
Russian National Research Medical University n. a. N. I. Pirogov
Russian Federation
Russian Federation
Sergei N. Shcherbo, Dr Bio Sci (habil.), professor, head of Dept
Faculty of postgraduate education
Clinical Laboratory Diagnostics Dept
Moscow
D. S. Shcherbo
Russian National Research Medical University n. a. N. I. Pirogov
Russian Federation
Russian Federation
Dmitry S. Shcherbo, PhD Bio, associate professor, senior researcher
Moscow
A. A. Novikov
Russian National Research Medical University n. a. N. I. Pirogov; Moscow Clinical Scientific and Practical Centre n. a. A. S. Loginov
Russian Federation
Russian Federation
Alexander A. Novikov, DBio Sci (habil.), associate professor, leading researcher
Faculty of postgraduate education
Clinical Laboratory Diagnostics Dept
Clinical Immunology Laboratory
Moscow
M. I. Savina
Russian National Research Medical University n. a. N. I. Pirogov
Russian Federation
Russian Federation
Marina I. Savina, DBio Sci (habil.), professor
Faculty of postgraduate education
Clinical Laboratory Diagnostics Dept
Moscow
T. I. Turkina
Russian National Research Medical University n. a. N. I. Pirogov
Russian Federation
Russian Federation
Tatiana I. Turkina, DBio Sci (habil.), professor
Faculty of postgraduate education
Clinical Laboratory Diagnostics Dept
Moscow
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Review
For citations:
Shcherbo S.N., Shcherbo D.S., Novikov A.A., Savina M.I., Turkina T.I. Genetic testing in clinical laboratory diagnostics: Present and future. Modern Laboratory (2). 2023;(23):65-70. (In Russ.) https://doi.org/10.33667/2078-5631-2023-23-65-70
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