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Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

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 cl...

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Detalles Bibliográficos
Autores principales: Harrison, Steven M., Rehm, Heidi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873511/
https://www.ncbi.nlm.nih.gov/pubmed/31752965
http://dx.doi.org/10.1186/s13073-019-0688-9