Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
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 path...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2019-11-01
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| coleção: | Genome Medicine |
| Acesso em linha: | http://link.springer.com/article/10.1186/s13073-019-0688-9 |
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