Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient
oleh: Tianyuan Wang, Jindi Ma, Yuan Shu, Bao Hong, Zhouhan Wang, Yingfeng Lu, Xiaopeng Yu, Xi Huang, Yimin Zhang
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2024-02-01 |
Deskripsi
Key Clinical Message 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.