Senior Clinical Analyst Genomenon South Windsor, Connecticut, United States
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 will explore how the integration of tools like the Clinical 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.