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Human

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Optical Genome Mapping for structural variation analysis in hematologic malignancies

Genome sequence assembly evaluation using long-range sequencing data

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

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

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