Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient
CLINICAL CASE REPORTS(2024)
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.
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Key words
exome sequencing,machine learning,multiple infections,Phenolyzer
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