Dynamicasome—a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations
Sign Up to like & getrecommendations! Published in 2025 at "Communications Biology"
DOI: 10.1038/s42003-025-08334-y
Abstract: Advances in genomic medicine accelerate the identification of mutations in disease-associated genes, but the pathogenicity of many mutations remains unknown, hindering their use in diagnostics and clinical decision-making. Predictive AI models are generated to combat… read more here.
Keywords: molecular dynamics; pathogenicity prediction; medicine; dynamicasome molecular ... See more keywords
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.
Sign Up to like & getrecommendations! Published in 2019 at "Genome research"
DOI: 10.1101/gr.240994.118
Abstract: Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and… read more here.
Keywords: disease specific; variant; disease; pathogenicity prediction ... See more keywords
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants
Sign Up to like & getrecommendations! Published in 2025 at "Clinical Genetics"
DOI: 10.1111/cge.14704
Abstract: The pathogenicity of cholestatic liver diseases (CLDs) remains insufficiently characterized, hindering definitive diagnosis and timely treatment. The aim of this study was to improve the pathogenicity prediction of novel bile acid (BA) transporter variants in… read more here.
Keywords: pathogenicity prediction; pathogenicity; prediction; silico ... See more keywords
Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions
Sign Up to like & getrecommendations! Published in 2025 at "BMC Genomics"
DOI: 10.1186/s12864-025-11787-4
Abstract: Accurate pathogenicity prediction of rare variants in coding regions is crucial for prioritizing candidate variants in human diseases and advancing personalized precision medicine. Although many prediction methods have been developed, it remains unclear how they… read more here.
Keywords: pathogenicity prediction; rare variants; performance; prediction ... See more keywords
Insights on variant analysis in silico tools for pathogenicity prediction
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1010327
Abstract: Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, but the interpretation of genetic variants requires expertise and computational power, therefore is still a challenge. Next-generation sequencing releases thousands of variants and… read more here.
Keywords: insights variant; pathogenicity prediction; variant analysis;