Publications by authors named "Guillaume Codet de Boisse"
Article Synopsis
- High-throughput sequencing is crucial for diagnosing blood cancers, but understanding missense mutations is still difficult.
- This study used the AlphaMissense database to evaluate how well machine learning can help predict the effects of these mutations for better interpretation.
- Analysis of 2073 variants from 686 patients showed that AlphaMissense predictions were highly accurate (AUC of ROC curve 0.95) and highlighted discrepancies with current clinical interpretation methods.
