Genomic Variant Interpretation

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Interpreting Genomic Variation: Inherited Cancer Susceptibility (FutureLearn)

Explore how robust variant interpretation is needed to support patients with increased risk of cancer. Explore germline variation in cancer susceptibility genes. Germline genomic variation can increase the risk of developing cancer. It’s essential to use the best evidence available to decide if a genomic variant is likely to [...]

Interpreting Genomic Variation: Fundamental Principles (FutureLearn)

Learn the principles and language of genomic variant interpretation and enhance your working knowledge of the ACMG guidelines. Discover the principles of genetic variant interpretation. Our individual genomes make us unique, and contribute to both rare and common disease. In genomic testing, it’s vital to distinguish the clinically relevant, [...]