Clinical Research | Genetics Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. May 27, 2024
Bioinformatics | Computational Biology | Genomics Variant Effect Prediction in the Age of Machine Learning. April 15, 2024
Bioinformatics | Genetics Genome-wide prediction of disease variant effects with a deep protein language model. August 10, 2023
Bioinformatics | Genetics | Molecular Diagnostics Understanding structure-guided variant effect predictions using 3D convolutional neural networks. July 21, 2023
Bioinformatics | Genetics | Proteomics High-throughput deep learning variant effect prediction with Sequence UNET. May 10, 2023
Bioinformatics | Genetics Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures. January 3, 2023
Bioinformatics | Genetics CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. February 23, 2021