Accepted_test

Biop-C: a novel Hi-C based approach for PGT-SR
by Yana Stepanchuk | Gridina Мaria | Torgunakov Nikita | Chuyko Eduard | Lagunov Timofey | Saifitdinova Alsu | Nevskaya Elizaveta | Kanbekova Olga | Fishman Veniamin | Novosibirsk State University, Novosibirsk, Russia; Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia | Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia | Novosibirsk State University, Novosibirsk, Russia; Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia | Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia | Novosibirsk State University, Novosibirsk, Russia; Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia | Herzen State Pedagogical University of Russia, Saint Petersburg, Russia; International Centre for Reproductive Medicine, Saint Petersburg, Russia | International Centre for Reproductive Medicine, Saint Petersburg, Russia | Regional Perinatal Center named after I.D. Yevtushenko, Tomsk, Russia | Novosibirsk State University, Novosibirsk, Russia; Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia
Abstract ID: 525
Event: BGRS-abstracts
Sections: [Sym 1] Section “Fundamental and applied 3D genomics”

Enter brief annotation of your abstract in this text form (around 250 words)

A high incidence of chromosomal abnormalities in early human embryos can affect their viability, implantation, and also cause abortion and congenital diseases. Current PGT methods detect aneuploidy, CNV and unbalanced translocations (due to altered copy number of regions included in translocation), but there is no effective approach which is able to differentiate between balanced and normal embryos. Hi-C can detect all types of chromosomal abnormalities, including balanced translocations. The aim of our work is optimization of Hi-C protocol for preimplantation genetic testing. We evaluated the possibility of Biop-C to detect different types of chromosomal abnormalities in trophectoderm biopsy samples. Ploidy concordance was 90% for biopsy samples and 85% for embryos. We were able to detect all CNV associated with unbalanced translocations analyzing both coverages and Hi-C maps. Biop-C analysis also revealed 4 balanced translocations, one of them Robertsonian. 

The thesis itself (up to 3 pages of text) should be attached as a separate file via the "Attachments" form (the buttons are located below this form on this page).
Guidelines for the thesis layout can be found here:
https://bgrssb.icgbio.ru/2024/abstracts/ (in English)
https://bgrssb.icgbio.ru/2024/ru/abstracts/ (in Russian)