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

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

Understanding how rare genetic variants influence complex traits remains a major challenge, particularly when these variants lie in noncoding regions of the genome. The effects of variants within ...
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 ...