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 ...

大規模な全ゲノム塩基配列決定研究により、複雑な表現型に関連するレアバリアント（RV）の解析が可能となってきている。しかし、一般的に使用されているRV関連性検定手法は、バリアントの機能を検出する能力が限られている。今回我々は、動的な ...

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 ...

Inherited Retinal Dystrophies (IRDs) are a heterogeneous group of rare (1:3000) degenerative disorders that often lead to progressive vision loss 1,2. As of May 2025, around 360 genes and genetic loci ...