medRxiv · All· Stephanou, C., Fylaktou, I., Halim-Fikri, H., Koopmann, T. T., Nfonsam, L. E., Bento, C., Harteveld, C. L., Kleanthous, M., Traeger-Synodinos, J., Michailidou, K., Papasavva, T., Zilfalil, B. A., Ross, J. E., Waye, J. S., Lederer, C. W., Kountouris, P., ClinGen Hemoglobinopathy Variant Curation Expert Panel ·· 2 天前AI 评分34
ClinGen Hemoglobinopathy VCEP 制定并验证 HBB、HBA2 地中海贫血 ACMG/AMP 疾病特异性规范
ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia
AI 导读
ClinGen Hemoglobinopathy VCEP制定HBB、HBA2地中海贫血首套ACMG/AMP规范，获ClinGen批准。共形成34项证据规定，覆盖22项ACMG/AMP证据标准。试点评估33个变异，结果与致病、良性分类高度一致，证据发布至ERepo和ClinVar。
来源：medRxiv · All · medrxiv.org