Nature

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

Large genome-wide association meta-analyses have allowed the discovery of hundreds of genetic variants, mostly common (minor allele frequency (MAF) > 0.05), associated with altered risk for T2D ...
Nature

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort

The alternative text for this image may have been generated using AI. Fig. 2: ClinVar classification and AlphaMissense pathogenicity scores for variants in individuals with inflammatory bowel diseases ...
News Medical

Scientists uncover key enzymes involved in bacterial pathogenicity

Gram-negative bacteria cause a variety of infectious diseases in plants and animals alike. Outbreaks of Salmonella and E. coli infections often make headlines due to their severity, and people have to ...
Kaleido Scope

Pathogenicity island mobilization and the evolution of virulence in Staphylococcus aureus

Dokland’s study, “Shape shifter: redirection of prolate phage capsid assembly by staphylococcal pathogenicity islands” was published in Nature Communications. Dokland said that Bacteriophages or ...