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AMP 2024 | Comprehensive Curated Content to Improve Detection and Reporting of Somatic and Germline Variants for WGS and Large Cancer Gene Panels

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Whole genome sequencing (WGS) and large gene panels in clinical cancer diagnostics can enhance diagnostic precision and significantly improve medical-decision making. The increased yield of these tests includes the identification of a wider array of actionable somatic variants and the detection of germline variants, adding complexity to reporting workflows. Comprehensive, expertly curated content characterizing reported genetic variants is needed to improve the efficiency and accuracy of diagnostic workflows.

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Our workshop at AMP 2024 explores how the integration of tools like the Cancer Knowledgebase of somatic variants and associated therapies and trials and the Mastermind Genomic Intelligence Platform of curated and indexed germline variants can streamline WGS and large gene panel diagnostics, enhancing the identification of actionable variants in somatic and hereditary cancers as well as non-malignant diseases.

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Complete the form below to view the recording:

Panelist
Mark J. Kiel, MD, PhD
Chief Scientific Officer & Co-Founder

Mark co-founded Genomenon in 2014 to close the evidence gap in rare disease and cancer. He holds an MD/PhD in Clinical Pathology from the University of Michigan and leads the company's scientific direction.

Panelist
Cara Statz, PhD
Manager, Oncology Curation

Cara has nearly 10 years of experience in clinical genomics, and has been contributing her expertise to interpretation of literature-based data related to genomic variants and targeted therapies in oncology and curation of those data into the Cancer Knowledgebase (CKB) since 2015. In addition to her curation-related activities, Cara regularly liaises with users to provide additional insights into the capabilities of CKB. She received her PhD from UCONN in genetics and genomics and has prior experience as a clinical research associate, and leverages her clinical and research expertise in her work on CKB, with the ultimate goal of enabling better patient outcomes.

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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

Explore Mastermind CORE
Every Missing Genetic Variant is a Patient Your Label Doesn't Reach
  • Rare disease and precision oncology programs rely on evidence fragmented across millions of published articles and supplemental datasets.
  • Genomenon builds the custom real-world evidence your program needs.
  • AI-powered search. Expert scientific curation.
  • The result: a broader label, more eligible patients, and a regulatory filing your team can defend.
Request a custom evidence build for your program
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