Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

High-frequency disease-causing alleles exist, but their number is rather small. This study aimed to interpret and reclassify common pathogenic (P) and likely pathogenic (LP) variants in ClinVar and to identify indicators linked with reclassification. We analyzed P/LP variants without conflicting int...

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Detalles Bibliográficos
Autores principales: Xiang, Jiale, Yang, Jiyun, Chen, Lisha, Chen, Qiang, Yang, Haiyan, Sun, Chengcheng, Zhou, Qing, Peng, Zhiyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962394/
https://www.ncbi.nlm.nih.gov/pubmed/31942019
http://dx.doi.org/10.1038/s41598-019-57335-5

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