Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Clin Case Rep
; 12(2): e8453, 2024 Feb.
Article
in En
| MEDLINE
| ID: mdl-38292225
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.
Full text:
1
Database:
MEDLINE
Type of study:
Prognostic_studies
/
Risk_factors_studies
Language:
En
Journal:
Clin Case Rep
Year:
2024
Type:
Article