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Features of the determination copy number variations during exome sequencing in newborns
https://doi.org/10.25557/2073-7998.2025.07.93-94
Abstract
The problem of copy number variation (CNV) is relevant in newborn examination using high-throughput sequencing. The message addresses the issues associated with such findings. CNV were reported to 49 patients.
About the Authors
I. O. Sadelov
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
J. Shubina
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
I. Y. Barkov
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
A. A. Voskoboinikov
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
D. N. Maslennikov
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
A. M. Lapshina
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
A. A. Dokshukina
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
M. V. Kuznetsova
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
G. V. Mikhaylovskaya
Research Center for Obstetrics, Gynecology and Perinatology Ministry of Health of Russian Federation
Russian Federation
Russian Federation
4, akademika Oparina st., Moscow, 117997
References
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Review
For citations:
Sadelov I.O., Shubina J., Barkov I.Y., Voskoboinikov A.A., Maslennikov D.N., Lapshina A.M., Dokshukina A.A., Kuznetsova M.V., Mikhaylovskaya G.V. Features of the determination copy number variations during exome sequencing in newborns. Medical Genetics. 2025;24(7):93-94. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.93-94
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