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 …

Motivation The biological effects of human missense variants have been studied
experimentally for decades but predicting their effects in clinical molecular diagnostics …

Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …

Large datasets describing the quantitative effects of mutations on protein function are
becoming increasingly available. Here, we leverage these datasets to develop Envision …

The success of personalized genomic medicine depends on our ability to assess the
pathogenicity of rare human variants, including the important class of missense variation …

The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …

Given increasing numbers of patients who are undergoing exome or genome sequencing, it
is critical to establish tools and methods to interpret the impact of genetic variation. While the …

Background Genetic variation in the human genome is a major determinant of individual
disease risk, but the vast majority of missense variants have unknown etiological effects …

Prioritizing missense variants for further experimental investigation is a key challenge in
current sequencing studies for exploring complex and Mendelian diseases. A large number …

A remarkable degree of genetic variation has been found in the protein-encoding regions of
DNA through deep sequencing of samples obtained from thousands of subjects from several …