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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 will discuss Genomenon’s approach to variant curation. We will 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 will outline 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
Denice Belandres
Customer Success Manager

Denice provides technical support and training to Mastermind users at all levels. With a background in germline variant analysis and preimplantation genetics in clinical NGS labs, she turns feedback into function, enabling implementation of Mastermind for a variety of clinical use-cases.

Jeffrey Bissonnette
Senior Director of Genomic Curation

With a background in genetic counseling, Jeffrey brings over a decade of experience in clinical genetics, variant interpretation, and software tools for variant analysis.

Anna McGill, MS, LCGC
Director of Product Quality, Genomenon

Anna has spent her training and early career helping patients to understand their genetic diagnoses and the health risks associated with those diagnoses. This effort continues at Genomenon, where she supervises a team of quality assurance specialists reviewing the curated variant data in our pursuit of full curation of the human genome.

Melida Mahinić
Curation Team Lead

With over 3 years of experience, Melida's background in biology with a focus on genetics and variant curation has made her extremely valuable in her role as Lead Curation Scientist.

The World’s Most Comprehensive Source of Genomic Evidence

Mastermind accelerates variant interpretation with immediate insight into the full text of millions of scientific articles. Prioritize your search results by clinical relevance and find what you are looking for 5-10 times faster

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The Most Comprehensive Source of Curated Genomic Evidence + Scientific Experts

We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.

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