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

Rare variant optimized GWAS with functional validation identifies causal architecture of kidney function in East Asian population

Chronic kidney disease is a growing burden, yet the genetic architecture of kidney function requires further investigation. We performed a genome-wide association study of estimated glomerular ...
EurekAlert!

TOAnnoPriDB: an integrative database for trans-omic annotation and prioritization of non-coding variants across human genome

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 ...
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 ...