LABORATORY OF GENOME EDITING

LABORATORY OF GENOME EDITING

Head of the Laboratory: Ekaterina Shubina, PhD in Biology

E-mail: e_shubina@oparina4.ru

FOCUS AREA

Noninvasive prenatal DNA screening (NIPS) for aneuploidy. Algorithms and software for NIPS data analysis have been developed by laboratory staff. Algorithms for data analysis are continuously being improved.

Preimplantation genetic screening (PGS), preimplantation genetic diagnosis (PGD).  Laboratory specialists develop software and improve data analysis algorithm for PGS and PGD using high-throughput sequencing and molecular karyotyping, develop test systems for research.

We analyze and interpret data of targeted and whole-genome sequencing of the human genome, the results of molecular karyotyping (chromosome microarray analysis) and other tests, and compare the data with symptoms. We also search for genetic causes of human diseases.

We collaborate with other departments of the Institute and the Center to develop diagnostic panels, conduct research and development, perform prenatal diagnosis and preconception screening, participate in the planning of experiments and analysis of the results of studies performed with the use of high-throughput technologies.

The laboratory also analyzes the presence and composition of pathogenicity and resistance determinants of microbial communities.