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 ...

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, ...

As large exome-sequenced datasets become available it has become possible to detect gene-level associations between the burden of extremely rare coding variants and a variety of phenotypes [1, 2].

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 ...

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the ...

Whether we are predisposed to particular diseases may depend to a large extent on variations in our genomes, but the influence on the presentation of certain pathological traits of genetic variants ...

Transcribe, splice, and everything’s nice—at least in healthy people. Scientists are finding that abnormal splicing, and genetic variants that cause it, may kickstart some neurodegenerative diseases.

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the ...

Researchers have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants. The method allows persons with high risk of disease to be distinguished more ...