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Overview

1. This arrow 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.
2. This arrow 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.
3. This arrow 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).
4. This arrow 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.
5. These arrows represent ongoing project consulting and advising from the GENYSIS team during the duration of your study.

Contact us via iLab for a free consultation!

GENYSIS can provide bioinformatic analysis, expert variant classification, confirmation of variants in a clinical lab, clinical reporting, and post-test services, in addition to consultations and project advising.

For clients enrolling prospectively, we can work with you during initial consultation to:

  1. Develop IRB consent language for return of clinical genetic results
  2. Develop protocols for submitting samples to the UNC BioSpecimen Processing Facility (BSP) for DNA extraction and storage
  3. Develop protocols for requesting exome/genome sequencing at the High-Throughput Sequencing Facility (HTSF)
  4. Determine the gene lists and types of variants to analyze
  5. Plan post-test services, including return of results