Laboratory of the Analysis of Genomic Data

HEAD OF LABORATORY

Ekaterina Shubina, Ph.D. in Biological Sciences

E-mail:  e_shubina@oparina4.ru

Laboratory staff is involved in the design of research projects and the analysis of the results that are conducted in the affiliated laboratories of the Institute.

FOCUS AREA:

• Non-invasive prenatal DNA screening for aneuploidy (NIPS). The algorithms and software for data analysis for NIPS have been developed and are being updated in the Laboratory.
• Preimplantation genetic screening (PGS), preimplantation genetic diagnosis (PGD). Laboratory staff is focused on the development of the software and improvement of the algorithms for PGS and PGD data analysis using high-throughput sequencing and molecular karyotyping. Test systems are being developed for specific research projects.
• Data analysis and interpretation of targeted and whole genome sequencing of the human genome, the results of molecular karyotyping (chromosomal microarray analysis) and other studies, including comparison of the obtained data with the clinical picture. Search for genetic causes of human diseases, prenatal diagnostics and preconception screening performed together with other Departments of the Institute.
• Research works on creation of diagnostic panels and other studies jointly with other Departments of the Institute and the Center.
• Analysis of composition of pathogenicity determinants and resistance of microbial communities.