assay: whole genome sequencing title: Germline variants in cutaneous neurofibroma series: NF-OSI Processing Initiative creator: NF-OSI license: UNKNOWN species: Homo sapiens studyId: syn23664726 dataType: GermlineVariants accessType: Private Access contributor: Kavita Sarin Frank McCormick Jaishri O. Blakeley Xing Hu Carlos G. Romo description: (This dataset will be updated through 2024.) Germline 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 variant calls from data batches 1 & 2 (105 individuals) obtained using Strelka2 from the nextflow Sarek workflow. diseaseFocus: Neurofibromatosis type 1 fundingAgency: NTAP manifestation: Cutaneous Neurofibroma yearProcessed: 2024 yearPublished: 2024
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