Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy—DEE94

Abstract: Developmental and epileptic encephalopathy (DEE) is extremely heterogeneous and only 30 to 50% of affected individuals receive a diagnosis upon routine genetic diagnostics. We show that genome sequencing, complemented by optical genome mapping (OGM), resolved an exome-negative case. Abstract: We performed trio short-read genome sequencing, karyotyping, OGM, and quantitative real-time PCR. Abstract: expression confirming the pathogenicity of the variant. Abstract: related DEE94 and likely underlie other (genetically unsolved) cases. There is not one technique that can detect all genetic variants. We emphasize the advantage of combining genome sequencing with OGM as a complementary second step in unresolved cases to improve the detection and structural characterization of genetic variation, including CCRs.