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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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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | 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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