DNA sequencing costs of data-generation have been decreasing due to advances in NGS technologies. As a result of these advances, new bottlenecks have emerged because of effort and expertise required for variant interpretation and result reporting. To address this need, Genosity provides review analysis and interpretation services.

Our holistic approach includes variant analysis and interpretation based on:

  • Phenotypic data
  • Published studies
  • Functional studies
  • In-silico models
  • Pathogenicity analysis and classification based on ACMG/AMP guidelines

Our final interpretation provides clinical evidence, references and any patient management implications based on that result when appropriate.