Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2)
https://doi.org/10.25557/2073-7998.2019.02.3-23
Abstract
This is a second version of guidelines for the interpretation of massive parallel sequencing (MPS) variants. First version was published in Medical Genetics journal in 2017. They were based on ACMG, CAP, ESHG and FDA guidelines and recommendations. Leading authorities on medical genetics and bioinformatics updated and finalized them. First version of guidelines was presented and discussed on all Russian conference «NGS in medical genetics» and all Russian conference «New technologies for diagnosing hereditary diseases». All members of these conferences and members of Russian Society of Medical Genetics could introduce amendments and give comments. Current version include reviewed notes and comments.
About the Authors
O. P. Ryzhkova
Research Centre for Medical Genetics, 115522, Moscow, Moskvorechie street, 1
Russian Federation
Russian Federation
O. L. Kardymon
Research Centre for Medical Genetics, 115522, Moscow, Moskvorechie street, 1
Russian Federation
Russian Federation
E. B. Prohorchuk
Federal Research Centre “Fundamentals of Biotechnology” of the Russian Academy of Sciences, 119071, Moscow, Leninsky Prospect, 33, Building 2
Russian Federation
Russian Federation
F. A. Konovalov
Independent Clinical Bioinformatics Laboratory, 123181, Moscow, st. Katukova, d. 21, v. 1
Russian Federation
Russian Federation
A. B. Maslennikov
State Budgetary Health Institution of the Novosibirsk Region «City Clinical Hospital №1», 630047, Novosibirsk, Zalessky street, 6
Russian Federation
Russian Federation
V. A. Stepanov
Tomsk National Research Medical Center the Russian Academy of Sciences, 634009, Tomsk, lane Cooperative 5
Russian Federation
Russian Federation
A. A. Afanasyev
«Rosalind» LLC., 119333, Moscow, Dmitry Ulyanov str, 3-24
Russian Federation
Russian Federation
E. V. Zaklyazminskaya
Petrovsky Russian Research Centre of Surgery, 119991, Moscow, GSP-1, Abrikosovsky lane, 2
Russian Federation
Russian Federation
D. V. Rebrikov
Pirogov Russian National Research Medical University, 117997, Moscow, Ostrovityanova str, 1
Russian Federation
Russian Federation
K. V. Savostianov
National Medical Research Center for Children’s Health, 119296 Moscow, Lomonosov Avenue, 2
Russian Federation
Russian Federation
A. S. Glotov
Institute of Translational Biomedicine of St Petersburg University, 199034 St. Petersburg, University Emb. 7-9; The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott, 199034, St. Petersburg, Mendeleevskaya line, 3
Russian Federation
Russian Federation
A. A. Kostareva
Federal North-West Medical Research Centre of the Ministry of Health of the Russian Federation, 197341, St. Petersburg, Akkuratova str, 2
Russian Federation
Russian Federation
A. E. Pavlov
Parseq Lab LLC», 197350 St. Petersburg, road to Kamenka str 74A
Russian Federation
Russian Federation
M. V. Golubenko
Tomsk National Research Medical Center the Russian Academy of Sciences, 634009, Tomsk, lane Cooperative 5
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics, 115522, Moscow, Moskvorechie street, 1
Russian Federation
Russian Federation
S. I. Kutsev
Research Centre for Medical Genetics, 115522, Moscow, Moskvorechie street, 1
Russian Federation
Russian Federation
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Review
For citations:
Ryzhkova O.P., Kardymon O.L., Prohorchuk E.B., Konovalov F.A., Maslennikov A.B., Stepanov V.A., Afanasyev A.A., Zaklyazminskaya E.V., Rebrikov D.V., Savostianov K.V., Glotov A.S., Kostareva A.A., Pavlov A.E., Golubenko M.V., Polyakov A.V., Kutsev S.I. . Medical Genetics. 2019;18(2):3-23. (In Russ.) https://doi.org/10.25557/2073-7998.2019.02.3-23
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