A catalogue of genetic mutations to help pinpoint the cause of diseases

AlphaMissense is a computational model designed to predict the pathogenicity of missense mutations, which can lead to disease. AlphaMissense was developed using genome-wide studies of human and mouse genomes. The prediction process involves comparing an individual’s sequenced or synthetic genome with the reference sequence of that individual and the expected variants found in other individuals with similar genotypes. The prediction algorithm uses a probabilistic model to assign a probability score for each variant based on its position, amino acid sequence, and known diseases caused by specific mutations. AlphaMissense can identify pathogenic missense mutations that have not been previously reported in the literature or that may have gone undetected due to differences in sequencing technologies. AlphaMissense has been applied to a diverse range of genes, including those involved in neurodegenerative diseases (such as Huntington’s disease and amyotrophic lateral sclerosis), cancer (such as lung and prostate cancer), infectious diseases (such as malaria and tuberculosis), and rare genetic disorders (such as cystic fibrosis and Fanconi anemia). By providing a more accurate prediction of disease risks, AlphaMissense can help improve the diagnosis, treatment, and prevention of these diseases. The application of AlphaMissense is not limited to genes with well-known mutations but extends to genes with lesser-known or undefined mutations that may contribute to human health and disease. By analyzing large datasets of genomic sequences, AlphaMissense can identify new mutations and their pathogenic potential in the context of these diseases. This is particularly important for understanding the underlying mechanisms of disease causation, which can aid in the development of more effective treatments. In summary, AlphaMissense is a powerful computational model that accurately predicts pathogenic missense mutations and their impact on human health and disease. It is able to identify new mutations with potential implications for diseases such as cancer, neurodegeneration, infectious disease, and rare genetic disorders. As the knowledge generated by these predictions continues to grow, it is expected that AlphaMissense will play a critical role in improving our understanding of human health and disease.