Technology Networks

Deep Learning for Variant Calling: How DeepVariant and Neural Networks Are Improving Genomic Accuracy

Deep learning variant calling has transformed genomic accuracy. Discover how DeepVariant works, outperforms classical tools, ...
The American Journal of Managed Care

Genetic Insights Shape Personalized Breast Cancer Management, Yet Variant Classification Uncertainty Persists

Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...
Labroots

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 ...
RMD Open

Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency

Objectives Treatment of rheumatoid arthritis (RA) relies on immunomodulatory drugs that can compromise immunity, inducing secondary immunodeficiency (SID). However, features of SID, such as ...