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Towards automation of germline variant curation inclinical cancer genetics

By Vaishnavi Ravichandran and others
Cancer care professionals are confronted with interpreting results from multiplexed gene sequencing of patients at hereditary risk for cancer. Assessments for variant classification now require orthogonal data searches, requiring aggregation of multiple lines of evidence from diverse resources. The burden of evidence for each variant to meet thresholds for pathogenicity... Show more
February 21, 2019
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Towards automation of germline variant curation inclinical cancer genetics
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