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Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/ Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitative Bayesian formulation. Here, we show that the un...
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| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8011844/ https://ncbi.nlm.nih.gov/pubmed/32720330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24088 |
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