Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretation
Maria M. Gridina, Timofey A. Lagunov, Polina S. Belokopytova, Nikita Torgunakov, Artem R. Nurislamov, Darya A. Yurchenko, Маркова Жанна Геннадьевна, Tatiana V. Markova, Yana Stepanchuk, Galina Koksharova, Pavel Orlov, Anna Subbotovskaya, О.А. Рыжкова, Nadezhda V Shilova, Veniamin Fishman
The paper demonstrates an integrative approach combining cytological, genomic, and transcriptomic methods to detect and characterize complex structural variants affecting specific genes and report a new neurodevelopmental phenotype.
Molecular Omics · Jan 1, 2026Peer-reviewedGenomics