OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press21710.17650/1818-8346-2016-11-4-22-32BASIC RESEARCHФУНДАМЕНТАЛЬНЫЕ ИССЛЕДОВАНИЯ В ПРАКТИЧЕСКОЙ МЕДИЦИНЕ НА СОВРЕМЕННОМ ЭТАПЕNEXT-GENERATION GENE SEQUENCING AND ITS APPLICATIONS IN ONCOHEMATOLOGYСЕКВЕНИРОВАНИЕ НОВОГО ПОКОЛЕНИЯ И ОБЛАСТИ ЕГО ПРИМЕНЕНИЯ В ОНКОГЕМАТОЛОГИИBarkhatovI. M.БархатовИ. М.
Russian Federation

6–8 L’va Tolstogo St., Saint Petersburg 197022, Russia

Ильдар Мунерович Бархатов.

197022 Санкт-Петербург, ул. Льва Толстого, 6–8; i.barkhatov@gmail.com

i.barkhatov@gmail.comPredeusA. V.ПредеусА. В.
Russian Federation

2 Kantemirovskaya St., Saint Petersburg 194100, Russia

194100 Санкт-Петербург, ул. Кантемировская, 2

ChukhlovinA. B.ЧухловинА. Б.
Russian Federation

6–8 L’va Tolstogo St., Saint Petersburg 197022, Russia

197022 Санкт-Петербург, ул. Льва Толстого, 6–8

R.M. Gorbacheva Memorial Research Institute of Children Oncology, Hematology and Transplantation, I.P. Pavlov First Saint Petersburg State Medical UniversityНаучно-исследовательский институт детской онкологии, гематологии и трансплантологии имени Р.М. Горбачевой, Первый Санкт-Петербургский государственный медицинский университет имени И.П. ПавловаBioinformatics Institute, Saint Petersburg National Research Academic University of the Russian Academy of SciencesИнститут биоинформатики, Санкт-Петербургский национальный исследовательский Академический университет Российской академии наук03122016114566304012017040120172016https://oncohematology.abvpress.ru/ongm/article/view/217

The review bears on basic principles and technologies of next-generation sequencing (NGS), as well as its applications for detection of gene mutations in leukemic cells. We discuss some novel data concerning NGS approach to studies of genetic heterogeneity in myeloproliferative disorders, detection of high-risk genes, including drug resistance mutations, epigenomic changes associated with leukemias, as well as molecular aspects of clonal evolution. A special section concerns basic problems with bioinformatics and adequate analysis of large digital databases obtained with NGS approach. Optimal choice of appropriate software is of utmost importance for adequate retrieval and interpretation of the NGS data.

Обзорная статья касается основных принципов и технологий генного секвенирования нового поколения (next-generationsequencing, NGS), а также его приложений к оценке генных мутаций в лейкозных клетках. Обсуждается ряд современных работ, касающихся применения NGS в исследованиях генетической гетерогенности при миелопролиферативных заболеваниях, для выявления генов высокого клинического риска, в том числе мутаций, связанных с резистентностью к терапии, анализа эпигеномных нарушений при лейкозах, а также молекулярных аспектов эволюции злокачественных клонов. Отдельный раздел посвящен основным проблемам, связанным с биоинформатикой и корректным анализом больших компьютерных баз результатов NGS-исследований. Адекватный выбор программных продуктов очень важен для адекватной обработки и интерпретации данных NGS.

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