Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia. [PDF]
Chakraborty SR +17 more
europepmc +1 more source
Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.
Reis LM +6 more
europepmc +1 more source
Detection of structural DNA variants in medulloblastomas using optical genome mapping. [PDF]
Kubon N +11 more
europepmc +1 more source
Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis. [PDF]
Yang X +9 more
europepmc +1 more source
Cytogenetics in the genomics era: why karyotyping still matters. [PDF]
Chebly A.
europepmc +1 more source
The entire <i>CYP51B</i> locus in azole-resistant isolates of the dermatophyte <i>Trichophyton indotineae</i> revealed by optical genome mapping. [PDF]
Yamada T +7 more
europepmc +1 more source
Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy. [PDF]
Xu Y +16 more
europepmc +1 more source

