When deploying v0.2.7, ensure your coordinate system (e.g., GRCh38 vs. T2T) matches the score annotations. Inconsistency here is the leading cause of "ghost variants" in clinical reports. For those working with large cohorts like the UK Biobank , v0.2.7 is highly recommended for its superior ability to distinguish between germline and somatic variations.
: The primary hub for PrimateAI_scores_v0.2.tsv.gz. Note that these are free for academic and non-profit use, but commercial application requires a license. EXOME Free Download (v0.2.7)
The EXOME v0.2.7 assets are typically hosted on academic and industry repositories. You can download the latest TSV files and demo datasets through the following channels: When deploying v0
: Improved handling of repetitive regions, particularly when aligned against the T2T-CHM13 reference genome . For those working with large cohorts like the
: Updated PrimateAI integration for better prediction of human mutation effects using deep learning.
