Molecular Cytogenetics

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PROJECT SUMMARY - MOLECULAR CYTOGENETIC SHARED RESOURCE The Molecular Cytogenetic Shared Resource (MCSR) provides tools for the preparation of human and murine samples suitable for molecular genetics and cytogenetics analysis of the entire genome. The goal is to provide AECC investigators with the whole spectrum of services necessary to analyze the genome at various levels of resolution. These services include the establishment of EBV transformed cell lines, and enrichment of blood cell subtypes that can be cryopreserved and stored in liquid nitrogen. Isolation of DNA and mRNA from a variety of tissue culture samples as well as primary biopsies is also provided. A full panel of services is provided, from preparation of metaphase chromosomes to the generation of custom designed probes and hybridization for the detection of copy number and structural chromosomal alterations. The MCSR provides analyses at all cytogenetic levels of resolution from standard to spectral karyotyping, and from whole chromosome paints to locus-specific probes for unique regions of the genome. A recently developed targeted sequencing panel for the mutational analysis of caretaker and gatekeeper genes is now also offered for studies at single nucleotide resolution of the cancer genome. MCSR personnel are trained to design targeted, locus- specific probes for regions of interest to investigators. All probes are custom designed and generated in-house. The MCSR also performs hybridizations on paraffin-embedded tissues as well as image acquisition and full data analysis.