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Johns Hopkins Genomics

Johns Hopkins Genomics is a joint effort of the McKusick-Nathans Institute of Genetic Medicine and the Department of Pathology. Johns Hopkins Genomics combines research units, including the Center for Inherited Disease Research (CIDR) and the Genetic Resources Core Facility (GRCF), with clinical operations, including the DNA Diagnostic Laboratory, the Molecular Pathology Laboratory and the newly formed Clinical Genome Laboratory. Johns Hopkins Genomics has approximately 200 staff, including clinical molecular geneticists, bioinformaticists, statistical geneticists, clinical geneticists and molecular pathologists, housed in a new building currently under construction in the East Baltimore BioPark adjacent to the medical school campus.

Johns Hopkins Genomics has substantial sequencing and IT capabilities that provide genotyping and sequencing for basic and clinical research projects, clinical exome and custom targeted sequencing for Mendelian variants and somatic mutations, phenotype-specific multigene panels for inherited disorders, oncologic gene panels for detection of somatic mutations in cancer and clinical cytogenetics services. We also support all current next-generation sequencing applications including RNA-seq, ChIP-seq and microbiome sequencing. In addition, sample processing is available, including live cell immortalization and a CAP-certified LN2 biorepository. DNA isolation, methylation testing, cell line authentication, mycoplasma detection, custom DNA assay design, single cell genomics and digital PCR and qPCR assays area also available. 

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