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.
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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Mark has extensive experience in genome sequencing and clinical data analysis underlying the vision and technology driving the Genomenon suite of software tools.
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 Clinical 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.
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.