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

Clinical course of the patient. Sulfamethoxazole and ceftriaxone (day 12 –17), linezolid (day 18), moxifloxacin (day 136–140), meropenem (day 141–161), faropenem and rifampicin (day 161). (A, B) Contrast-enhanced CT of the pulmonary at day 65. (C, D) Contrast-enhanced CT of the pulmonary at day 132. Key Clinical MessageAlphaMissense 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.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research