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

利用 AlphaMissense 预测多重肺部感染患者中有价值的错义变异

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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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