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Rigor and Reproducibility

The GENYSIS Core recognizes the critical importance of rigor and reproducibility in research and is committed to ensuring that the analyses we provide are documented, transparent, and standardized.

We contribute to these efforts in the following ways:

  • Data transfer is validated by checksum.
  • Source code and data are versioned.
  • Analysis is performed using standardized, version-controlled software pipelines. The versions of each individual software package and referenced datasets are recorded for every analysis.
  • Quality control metrics are available to clients, including read-depth, percentage mapped reads, and percentage duplicates.
  • Variant analysts are trained according to an internal, versioned standard operating procedure.
  • Variants for confirmation are determined by a multidisciplinary team consisting of clinical geneticists, laboratory geneticists, and genetic counselors.
  • Variant confirmation is performed via Sanger sequencing in the CLIA-certified, CAP-accredited UNC McLendon Molecular Genetics laboratory.
  • Variant classification is performed according to the ACMG/AMP/ClinGen Standards and Guidelines for the Interpretation of Sequence Variants (Richards S, et al. 2015).