Mosaicism in preimplantation human embryos

Saifitdinova, Alsu; Glotov, Oleg S.; Poliakova, Irina V.; Bichevaya, N. K.; Loginova, Julia A.; Kuznetsova, R. A.; Леонтьева, О.А.; Nevskaia, Elizaveta E.; Pavlova, Olga A.; Puppo, I. L.; Shikov, Anton E.; Urazov, Stanislav P.; Kuznetzova, T. V.; Сарана, А М; Scherbak, Sergei G.; Baranov, Vladislav S

doi:10.33910/2687-1270-2020-1-3-225-230

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References 15 publications

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“…A comprehensive approach, based on an entire array of molecular, genetic, cytogenetic, and embryological methods, in pregnancy planning is desperately demanded today. CGPs, genetic mapping, and NGS are present in all areas of medical science, enabling clinical medicine to solve reproductive problems, among other issues [ 1 , 23 ], such as the following: noninvasive prenatal testing (NIPT) or screening for monogenic and oligogenic diseases via the detection of pathogenic variants in probands and high-risk families; pregnancy planning via the use of preimplantation genetic diagnostics (PGDs) and treatment; and diagnosis confirmation, prospectively extending into MFD and infectious (COVID-19) disease risk assessment in addition to the identification of phenotypic traits in humans [ 92 , 93 , 94 ] ( Figure 4 ).…”

Section: New-generation Sequencing Phenotypic Screening Oligogenic An...mentioning

confidence: 99%

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Glotov

Chernov

Glotov

2023

JPM

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Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis of monogenic diseases (MDs) and the examination of seemingly healthy populations to reveal a wide range of potential risks prior to disease manifestation (in the future, exome sequencing may outpace costly and less informative genome sequencing to become the first-line examination technique). This review establishes the human genetic passport as a new WES-based clinical concept for the identification of new candidate genes, gene variants, and molecular mechanisms in the diagnosis, prediction, and treatment of monogenic, oligogenic, and multifactorial diseases. Various diseases are addressed to demonstrate the extensive potential of WES and consider its advantages as well as disadvantages. Thus, WES can become a general test with a broad spectrum pf applications, including opportunistic screening.

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