Identification of germline population variants misclassified as cancer-associated somatic variants

Abstract excerpt

Introduction: Databases used for clinical interpretation in oncology rely on genetic data derived primarily from patients of European ancestry, leading to biases in cancer genetics research and clinical practice. One practical issue that arises in this context is the potential misclassification of multi-ancestral population variants as tumor-associated because they are not represented in reference genomes against...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer Genomics and Diagnostics
• Share to Genetic factors in colorectal cancer
• Share to Genomics and Rare Diseases