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

Abstract

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: Phenolyzer; exome sequencing; machine learning; multiple infections.