癌症临床变异解读开放获取数据库的比较：以骨髓增生异常综合征/急性髓系白血病为例
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML.
作者信息
Banck Henrik, Dugas Martin, MÜller-Tidow Carsten, Sandmann Sarah
机构信息
Institute of Medical Informatics, University of Münster, Münster, Germany.
Medizinische Klinik, Abteilung Innere Medizin V, University Hospital Heidelberg, Heidelberg, Germany.
出版信息
Cancer Genomics Proteomics. 2021 Mar-Apr;18(2):157-166. doi: 10.21873/cgp.20250.
BACKGROUND
Recently, guidelines for variant interpretation in cancer have been established. However, these guidelines do not mention which databases are most suited to performing this task.
MATERIALS AND METHODS
We give an overview of existing databases and evaluate their benefit in practical application. We compared three meta-databases and 12 databases for a dataset of patients with myelodysplastic syndrome or acute myeloid leukemia.
RESULTS
Clinical implications were found for 13% of all variants. One-third of variants with therapeutic implications were uniquely contained in one database. The VICC meta-database was the most extensive source of information, featuring 92% of variants with a drug association. However, a comparison of meta-databases and original sources indicated that some variants are missing in those meta-databases.
CONCLUSION
Public databases provide decision support for interpreting variants but there is still need for manual curation. Meta-databases facilitate the use of multiple resources but should be interpreted with caution.
背景
最近，已经制定了癌症变异解读指南。然而，这些指南并未提及哪些数据库最适合执行此任务。
材料与方法
我们概述了现有数据库，并评估了它们在实际应用中的益处。我们针对骨髓增生异常综合征或急性髓性白血病患者数据集比较了三个元数据库和12个数据库。
结果
在所有变异中，13%具有临床意义。具有治疗意义的变异中有三分之一仅包含在一个数据库中。VICC元数据库是最广泛的信息来源，92%的变异与药物有关联。然而，元数据库与原始来源的比较表明，这些元数据库中缺少一些变异。
结论
公共数据库为变异解读提供决策支持，但仍需要人工整理。元数据库便于使用多种资源，但应谨慎解读。
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