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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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Xiang, Jiale, Yang, Jiyun, Chen, Lisha, Chen, Qiang, Yang, Haiyan, Sun, Chengcheng, Zhou, Qing, Peng, Zhiyu
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
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Article
Online adgang: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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