Each step in the laboratory process requires a commitment to accuracy. An error at any step impacts outcomes. For the patient, an accurate test result drives optimal treatment.

At Myriad, we employ various methods for variant interpretation in hereditary cancer testing to ensure analytical and interpretive accuracy are ever present, driving the best possible treatment and outcomes.

Myriad relies on unique methodologies in order to make 60% of classifications.


Techniques using data unique to Myriad

  • Mutation Co-occurrence™ (M-CO™): Myriad’s unique statistical model – NPV >99.9%1
  • PHENO® analysis: Myriad’s unique family history weighting tool – PPV and NPV >99%2,5,6

Techniques using data enhanced by Myriad

  • Literature reviews: Myriad employs PhD-level scientists to perform literature reviews, powered by an automated literature search algorithm.7
  • Population analysis: Myriad’s approach described in Eggington et al3
  • In trans co-occurrence and homozygosity: Demonstrated to be >99% accurate4
  • Segregation analysis: Myriad’s approach described in Eggington et al3
  • Functional RNA splice site analysis: Myriad has a dedicated research laboratory8
  • Structural biology analysis »


  1. Coffee B, et al. Poster Presentation ACMG 2015.
  2. Pruss D, et al. Breast Cancer Res Treat 2014 Aug; 147(1):119-32.
  3. Eggington JM, et al. Clin Genet 2014 Sep; 86(3):229-37.
  4. Fernandes P, et al. Poster Presentation ACMG 2015.
  5. Morris B, et al. Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm. BMC Genetics. 2016;17(1):99.
  6. Bowles KR, et al. Reclassification of uncertain variants identified in high and moderate cancer risk genes using history weighting analysis. Presented at American College of Medical Genetics, March 11, 2016.
  7. Esterling L, et al. Comparison of a literature search algorithm and curated publication database with the literature content of other locus specific databases. Presented at American Society of Human Genetics, October 8, 2015.
  8. Warf MB, et al. RNA functional studies for the classification of germline variants of uncertain significance that may impair splicing. Presented at American Society of Human Genetics, October 7, 2015.