Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient

Abstract

Key Clinical Message AlphaMissense is proficient in predicting the clinical classification of missense variants. we utilized AlphaMissense to find disease‐relevant variants within a polymicrobial pulmonary infection case. Exome sequencing was performed in this patient, and AlphaMissense and Phenolyzer were combined to investigate disease‐relevant variants screening from exome sequencing results.

Keywords

• exome sequencing
• machine learning
• multiple infections
• Phenolyzer