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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Research output: Contribution to journal › Article › peer-review

Section of Molecular Biology and Biotechnology

DOI

https://doi.org/10.3390/jpm12071132
Final published version

Evgeniia A. Sotnikova
Anna V. Kiseleva
Vladimir A. Kutsenko
Anastasia A. Zharikova
Vasily E. Ramensky
Mikhail G. Divashuk
Yuri V. Vyatkin
Marina V. Klimushina
Alexandra I. Ershova
Karina Z. Revazyan
Olga P. Skirko
Marija Zaicenoka
Irina A. Efimova
Maria S. Pokrovskaya
Oksana V. Kopylova
Anush M. Glechan
Svetlana A. Shalnova
Alexey N. Meshkov
Oxana M. Drapkina

Original language	English
Article number	1132
Journal	Journal of Personalized Medicine
Volume	12
Issue number	7
DOIs	https://doi.org/10.3390/jpm12071132
Publication status	Published - Jul 2022

State classification of scientific and technological information

76 MEDICINE AND HEALTH CARE

Research areas

allele frequency, autosomal recessive disorders, carrier screening, CFTR, GJB2, PAH, population, SERPINA1

OECD FOS+WOS

3 MEDICAL AND HEALTH SCIENCES

ID: 36958311