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РНК СЕКВЕНИРОВАНИЕ ПРИ ПЛОСКОКЛЕТОЧНОМ РАКЕ ПИЩЕВОДА: ОТ ЗАБОРА БИОМАТЕРИАЛА ДО СЕКВЕНИРОВАНИЯ НА HISEQ2000
В Казахстане отмечается высокая заболеваемость плоскоклеточным раком пищевода, частота заболеваемости составляет 10,1:100 000. В структуре смертности рак пищевода среди мужчин – занимает 5-ое, среди женщин – 9-ое место в республике Казахстан. Молекулярные механизмы, способствующие инициации и прогрессированию онкопатологии еще недостаточно изучены. Тем не менее, отсутствие чувствительных и специфичных биомаркеров для диагностики онкозаболеваний подчеркивает необходимость дополнительных исследований по изучению развития канцерогенеза. В этом аспекте перспективным является исследование транскрип...
Толығырақ
2016 жыл | Шығарылым: 5 | Беттер: 53-63

RNA SEQUENCING OF SQUAMOUS ESOPHAGEAL CANCER: FROM THE COLLECTION OF THE BIOMATERIAL UNTIL SEQUENCING ON HISEQ2000
The squamous esophageal cancer is a disease which is highly frequent in Kazakhstan, the frequency of the disease is 10,1:100 000. In the mortality structure esophageal cancer takes place among men the 5th place, among women the 9th place in the Republic of Kazakhstan. The molecular mechanisms which contribute to the initiation and progression of the cancer pathology are not investigated enough. Nevertheless, the lack of the sensitive and specific biomarkers for the diagnosis of the cancer diseases, underlines about the necessity of the additional research works to study about the development o...
Толығырақ
2016 жыл | Шығарылым: 5 | Беттер: 53-63

DEVELOPMENT OF HALOPLEX PANEL AND PREPARATION OF DNA LIBRARIES FOR TARGETED SEQUENCING OF CARDIAC ARRHYTHMIAS
Method of preparation of custom HaloPlex cardiogenetic panel (Agilent Technologies) and method of preparation of DNA libraries for targeted sequencing of 96 genes associated with cardiac arrhythmias were described in details in this article. SureDesign Online Design software (Agilent Technologies) was used to create the HaloPlex panel. Final design was developed for Illumina platform using Human Genome version 19, GRCh 37. 19958 amplicons were generated by the program, 99,46% of all target regions were covered successfully. DNA libraries were prepared for 48 samples using t...
Толығырақ
2016 жыл | Шығарылым: 5 | Беттер: 43-52

DETERMINATION OF GENETIC VARIANTS ASSOCIATED WITH HYPERTENSION, OBESITY AND DIABETES IN KAZAKH POPULATION TO STUDY INTERACTION OF GENETIC VARIANTS AND METABOLOME
In this work genetic variants associated with hypertension, obesity and diabetes were characterized, and genomic data of 60 samples were compared using Т-HOD (The Text-mined Hypertension, Obesity and Diabetes candidate gene database (T-HOD) international database.
Genetic variants extracted from whole genomes and exomes, and associated with hypertension, obesity and diabetes based on PolyPhen2 and SIFT algorithmic predictors of mutation pathogenicity were analyzed. Seven genetic variants were detected in GHRL (rs4684677), MTHFR (rs1801133), OPRM1 (rs17999...
Толығырақ
2016 жыл | Шығарылым: 5 | Беттер: 30-42