Nature

Comparative assessment of annotation tools reveals critical antimicrobial resistance knowledge gaps in Klebsiella pneumoniae

As whole-genome sequencing and high-performance computing costs decline, it has become common to utilise increasingly complex in silico approaches to predict the antimicrobial resistance (AMR) profile ...
Nature

Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures

Recent advances in AI-based methods have revolutionized the field of structural biology. Concomitantly, high-throughput sequencing and functional genomics have generated genetic variants at an ...
Medical Xpress

Researchers develop new tool for better classification of inherited disease-causing variants

Researchers from Children's Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of ...
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 ...