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

Autor: Sotnikova EA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Kiseleva AV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Kutsenko VA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia., Zharikova AA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia., Ramensky VE; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia., Divashuk MG; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; All-Russia Research Institute of Agricultural Biotechnology, Timiryazevskaya Street, 42, 127550 Moscow, Russia., Vyatkin YV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.; Novosibirsk State University, 1, Pirogova Str., 630090 Novosibirsk, Russia., Klimushina MV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Ershova AI; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Revazyan KZ; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Skirko OP; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Zaicenoka M; Moscow Institute of Physics and Technology, Dolgoprudny, Institutskiy per.9, 141701 Dolgoprudny, Russia., Efimova IA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Pokrovskaya MS; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Kopylova OV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Glechan AM; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Shalnova SA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Meshkov AN; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia., Drapkina OM; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.

Publikováno v: Journal of personalized medicine [J Pers Med] 2022 Jul 12; Vol. 12 (7). Date of Electronic Publication: 2022 Jul 12.