Standardize tumor classification and variant annotation for reproducible cohort building with COSMIC
Accurate interpretation of cancer genomics depends on standardized disease classification, tumor characterization and variant annotation. In this joint COSMIC and QIAGEN webinar, we show how these ...
In recent years, the development of large-scale sequencing projects has identified numerous genomic variants in the human genome. For instance, the NyuWa genome resource (Cell Reports, 2021), led by ...
Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the ...
Researchers have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants. The method allows persons with high risk of disease to be distinguished more ...
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