Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Exciting new technologies are often self-limiting in their rollout, as access to state-of-the-art
instrumentation or the need for years of hands-on experience, for better or worse, ensures …

The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …

Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …

Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …

Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …

Unlike most tumor suppressor genes, the most common genetic alterations in tumor protein
p53 (TP53) are missense mutations,. Mutant p53 protein is often abundantly expressed in …

High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …

TP53, which encodes the tumor suppressor p53, is the most frequently mutated gene in
human cancer. The selective pressures shaping its mutational spectrum, dominated by …

Determining the pathogenicity of genetic variants is a critical challenge, and functional
assessment is often the only option. Experimentally characterizing millions of possible …