https://www.completegenomics.com/videos/rare-disease-diagnostics-via-wgs-optical-mapping-transcriptomics/
A New Paradigm for Genomic Diagnosis: Combining Optical Genome Mapping, Whole Genome Sequencing and...
optical genome mapping
https://output.eyehospital.nl/nl/publications/optical-genome-mapping-and-revisiting-short-read-genome-sequencin/
Optical genome mapping and revisiting short-read genome sequencing data reveal previously...
optical genome mappingshort readrevisiting
https://www.anaisdedermatologia.org.br/en-indeterminate-cell-histiocytosis-with-etv3ncoa2-articulo-S0365059626000553
Indeterminate cell histiocytosis with ETV3::NCOA2 fusion detected by optical genome mapping | Anais...
Following observation of a generalized eruption in a young patient with a unique histopathology, the term Indeterminate Cell Histiocytosis (ICH) was