Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
Abstract Inherited retinal dystrophies (IRD) are a highly heterogeneous group of rare diseases with a molecular diagnostic rate of >50%. Reclassification of variants of uncertain significance (VUS) poses a challenge for IRD diagnosis. We collected 668 IRD cases analyzed by our geneticists using t...
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| Auteurs principaux: | , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/720741e99c944b1c8ee4d0d7b5c84e84 |
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