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Identification of Misclassified ClinVar Variants via Disease Population Prevalence |
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| Authors: | Naisha Shah Ying-Chen Claire Hou Hung-Chun Yu Rachana Sainger C. Thomas Caskey J. Craig Venter Amalio Telenti |
| Affiliation: | 1. Human Longevity Inc., San Diego, CA 92121, USA;2. Baylor College of Medicine, Houston, TX 77030, USA;3. J. Craig Venter Institute, La Jolla, CA 92037, USA |
| Abstract: | |
| Keywords: | ACMG prevalence penetrance ClinVar OrphaNet pathogenic variant |
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