GenomicsMolecular OmicsPeer-reviewed
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…·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.
DOI 10.1093/molecular-omics/aaiag006