Unraveling Genomic Complexity: Expert Insights into Variant Curation & Interpretation


Variant curation and interpretation presents significant challenges due to the complexity and variability of genomic data – from the need for sophisticated bioinformatics tools to the use of disparate nomenclature standards, there are major hurdles that researchers need to overcome to be able to work meaningfully with genomic data. Accurate variant interpretation relies on up-to-date knowledge of genomic and disease literature which continually evolve. Classification of variants is essential but can be inaccurate because of incomplete information or from overlooking crucial pieces of evidence. Overcoming these challenges requires effort to develop robust strategies for accurate variant interpretation in clinical practice. In this webinar, experts from our curation team discuss Genomenon’s approach to variant curation. We discuss how AI is utilized in article identification and how our trained variant scientists review each publication, with a focus on comprehensiveness and accuracy. Our team also outlines how this curated data can be utilized by clinical laboratories to expedite variant interpretation. You will learn:
  • The role of AI in curation & interpretation
  • How our curation team systematically records discrete evidence in order to apply criteria
  • How our product quality team reviews a large project to ensure scientific accuracy

SPEAKERS

Denice Belandres bio photo circle web
2024 Jeffrey Bissonnette Bio Image Circle
Anna McGill bio image 2024 circle
Denice Belandres Customer Success Manager
Jeffrey Bissonnette, MSc, CGC
Senior Director of Genomic Curation
Anna McGill, MS, CGC
Senior Director of Product Quality
Melida Mahinić
Curation Team Lead