Guidelines for the interpretation of massive parallel sequencing variants
Abstract
Massive parallel sequencing (MPS) are the most progress and success of technologies in genetic researches. However, the new technologies bring challenges in terms of data management, as well as for the bioinformatics and interpretation of result. This guideline for the evaluation and validation of MPS data is the first document in Russian Federation. A group of bioinformatics, laboratory genetics and clinical genetics worked at these guidelines. We believe that these recommendations would help to stakeholders in the field of human genetics uniforming and managing MPS data.
About the Authors
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. L. Kardymon
Genetico LLC
Russian Federation
Russian Federation
E. B. Prohorchuk
Fundamentals of Biotechnology» of the Russian Academy of Sciences
Russian Federation
Russian Federation
F. A. Konovalov
Genomed LLC
Russian Federation
Russian Federation
A. B. Maslennikov
City Clinical Hospital №1
Russian Federation
Russian Federation
V. A. Stepanov
Tomsk National Research Medical University the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Afanasyev
iBinom Inc
Russian Federation
Russian Federation
E. V. Zaklyazminskaya
Petrovsky Russian Research Centre of Surgery
Russian Federation
Russian Federation
A. A. Kostareva
V.A. Almazov Federal North-West Medical Research Centre of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. E. Pavlov
Parseq Lab LLC
Russian Federation
Russian Federation
M. V. Golubenko
Tomsk National Research Medical University the Russian Academy of Sciences
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. I. Kutsev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. ACMG clinical laboratory standards for next-generation sequencing, Genetics in medicine, V. 15, Number 9, September 2013, p. 733-747
2. College of American Pathologists’ Laboratory Standards for Next-Generation Sequencing Clinical Tests, Arch Pathol Lab Med. 2015;139:481-493
3. Guidelines for diagnostic next-generation sequencing, European Journal of Human Genetics (2016) 24, 2-5
4. Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases, Document issued on July 8, 2016 https://www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/UCM509838.pdf
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., Kostareva A.A., Pavlov A.E., Golubenko M.V., Polyakov A.V., Kutsev S.I. Guidelines for the interpretation of massive parallel sequencing variants. Medical Genetics. 2017;16(7):4-17. (In Russ.)
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