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Human

Optical Genome Mapping Identifies Clinically Relevant Genomic rearrangements in Prostate Cancer Biopsy Sample

Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains

Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells

Multiplex structural variant detection by whole-genome mapping and nanopore sequencing

CD34+CD19-CD22+ B-cell progenitors might underlie phenotypic escape in patients treated with CD19-directed therapies

Optical genome mapping capability expanded to enable detection of absence of heterozygosity

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening

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