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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Xiang, Jiale, Yang, Jiyun, Chen, Lisha, Chen, Qiang, Yang, Haiyan, Sun, Chengcheng, Zhou, Qing, Peng, Zhiyu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6962394/
https://ncbi.nlm.nih.gov/pubmed/31942019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-57335-5
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