Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, ...
Polygenic scores (PGS) have shown promise in predicting complex traits and disease risk, but their accuracy remains limited and poorly transferable across ancestries. Integrating functional ...
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 ...
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 ...
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