assay: whole genome sequencing title: Copy number variants of cutanateous neurofibromas series: NF-OSI Processing Initiative creator: NF-OSI license: UNKNOWN species: Homo sapiens studyId: syn23664726 dataType: CopyNumberVariants accessType: Private Access description: (This dataset will be updated through 2024.) Copy number variants were derived from whole genome sequencing data of normal tissue (saliva) contributed by a cohort of individuals with cutaneous neurofibromas. The current version of the dataset includes processing of data batches 1 (53 individuals) with CNVkit from the nextflow Sarek workflow. diseaseFocus: Neurofibromatosis type 1 fundingAgency: NTAP manifestation: Cutaneous Neurofibroma yearProcessed: 2024 yearPublished: 2024
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