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Clinical Genomic Analysis (GENYSIS) Core

This image is an overview of the GENYSIS workflow. Arrow 1 represents the flow of raw sequence data into our bioinformatic pipeline. The Biospecimen Processing Facility (BSP) is an independent core facility that provides DNA extraction in a CLIA regulated environment. The High Throughput Sequencing Facility (HTSF) is an additional independent research core facility that can perform exome/genome sequencing. Arrow 2 represents raw sequence data converted into variant calls. GENYSIS can accept genomic sequence data from other providers outside HTSF, but this may take additional consultations to identify appropriate means of mapping information. Arrow 3 represents transmission of variants for confirmation. After discussing findings at weekly meetings, variant confirmation is performed in the CAP/CLIA Molecular Genetics Laboratory (MGL), a clinical report is returned to the study PI, and the results reported in Epic (if participant is a UNC patient). Arrow 4 represents transmission of the clinical report back to the patient. GENYSIS can assist in reviewing the clinical report, providing educational resources, and identifying the appropriate clinical follow-up. This is an optional step. The #5 arrows represent ongoing project consulting and advising from the GENYSIS team during the duration of your study.

The Clinical Genomic Analysis (GENYSIS) Core is a research service that collaborates with the BioSpecimen Processing (BSP) facility, the High-Throughput Sequencing Facility (HTSF), and the McLendon Molecular Genetics Laboratory (MGL) to provide clinical researchers with five main services:

  1. Bioinformatics – performing human genome alignment of sequence data generated from the HTSF (or other sequencing center) and variant calling via a custom in-house pipeline.
  2. Variant analysis – correlation with participant phenotypic data, and analysis of called variants by highly trained staff. Reportable variants are discussed at a weekly meeting attended by MDs, PhDs, and genetic counselors (GCs).
  3. Clinical reporting – generation of a clinical-grade test report for the variants clinically confirmed in the MGL that can also be uploaded to Epic if the participant is a UNC patient.
  4. Post-test services – assisting the study, clinician, participants, and their family, including reviewing results, providing educational resources, and identifying appropriate clinical follow-up.
  5. Consultations and Project Advising – We provide an initial free consultation to discuss the set-up, scope, and specifications of your project. Additional consultations are available at a cost if the project scope and/or specifications are changed. Contact GENYSIS for a free consultation!