ClinVar 中的再分类数据：“可能致病”真的有 90%的可能性吗？
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.
机构信息
Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Main Street, Cambridge, MA, 02142, USA.
Department of Pathology, Harvard Medical School, Shattuck Street, Boston, MA, 02115, USA.
出版信息
Genome Med. 2019 Nov 21;11(1):72. doi: 10.1186/s13073-019-0688-9.
Abstract
In 2015, professional guidelines defined the term 'likely pathogenic' to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, depending on whether LP to VUS reclassifications are included and on how these classifications are categorized.
摘要
2015 年，专业指南将“很可能致病”定义为致病性概率为 90%。为了确定当前的实践是否反映了这一定义，我们从 2016 年到 2019 年跟踪了 ClinVar 分类。在此期间，根据是否包括 LP 到 VUS 的重新分类，以及如何对这些分类进行分类，很可能致病的分类中有 83.8%至 99.1%被重新分类为致病性。
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