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Kiseleva AV, Klimushina MV, Sotnikova EA, et al. A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. J Pers Med. 2020;10(3)doi: 10.3390/jpm10030140.
Kiseleva, A. V., Klimushina, M. V., Sotnikova, E. A., Divashuk, M. G., Ershova, A. I., Skirko, O. P., Kurilova, O. V., Zharikova, A. A., Khlebus, E. Y., Efimova, I. A., Pokrovskaya, M. S., Slominsky, P. A., Shalnova, S. A., Meshkov, A. N., & Drapkina, O. M. (2020). A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of personalized medicine, 10(3), . https://doi.org/10.3390/jpm10030140
Kiseleva, Anna V, et al. "A Data-Driven Approach to Carrier Screening for Common Recessive Diseases." Journal of personalized medicine vol. 10,3 (2020). doi: https://doi.org/10.3390/jpm10030140
Kiseleva AV, Klimushina MV, Sotnikova EA, Divashuk MG, Ershova AI, Skirko OP, Kurilova OV, Zharikova AA, Khlebus EY, Efimova IA, Pokrovskaya MS, Slominsky PA, Shalnova SA, Meshkov AN, Drapkina OM. A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. J Pers Med. 2020 Sep 22;10(3). doi: 10.3390/jpm10030140. PMID: 32971794; PMCID: PMC7563953.
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J Pers Med. 2020 Sep 22;10(3). doi: 10.3390/jpm10030140.

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal of personalized medicine

Anna V Kiseleva, Marina V Klimushina, Evgeniia A Sotnikova, Mikhail G Divashuk, Alexandra I Ershova, Olga P Skirko, Olga V Kurilova, Anastasia A Zharikova, Eleonora Yu Khlebus, Irina A Efimova, Maria S Pokrovskaya, Petr A Slominsky, Svetlana A Shalnova, Alexey N Meshkov, Oxana M Drapkina

Affiliations

  1. Federal State Institution «National Medical Research Center for Therapy and Preventive Medicine» of the Ministry of Healthcare of the Russian Federation, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
  2. Kurchatov Genomics Center-ARRIAB, All-Russia Research Institute of Agricultural Biotechnology, Timiryazevskaya Street, 42, 127550 Moscow, Russia.
  3. Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Leninskie Gory, 1-73, 119991 Moscow, Russia.
  4. Institute for Information Transmission Problems, Russian Academy of Sciences, Bol'shoi Karetnyi per., 19, 127051 Moscow, Russia.
  5. Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov Sq., 2, 123182 Moscow, Russia.

PMID: 32971794 PMCID: PMC7563953 DOI: 10.3390/jpm10030140

Abstract

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the

Keywords: CFTR; GJB2; PAH; SERPINA1; alpha-1 antitrypsin deficiency; carrier screening; cystic fibrosis; phenylketonuria; sensorineural hearing loss

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