期刊
GENOME MEDICINE
卷 11, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13073-019-0688-9
关键词
-
资金
- National Human Genome Research Institute of the National Institutes of Health (NIH) [U41HG006834]
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.
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