Nature

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

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, ...
Nature

Integration of variant annotations using deep set networks boosts rare variant association testing

Rare genetic variants can have strong effects on phenotypes, yet accounting for rare variants in genetic analyses is statistically challenging due to the limited number of allele carriers and the ...
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 ...