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Initiative Co-Leaders

About the Initiative

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 four 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.

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