Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

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 two differ...

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Détails bibliographiques
Publié dans:NPJ Genom Med
Auteurs principaux: Iancu, Ionut-Florin, Avila-Fernandez, Almudena, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Riveiro-Alvarez, Rosa, Almoguera, Berta, Martin-Merida, Inmaculada, Del Pozo-Valero, Marta, Perea-Romero, Irene, Corton, Marta, Minguez, Pablo, Ayuso, Carmen
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7902814/
https://ncbi.nlm.nih.gov/pubmed/33623043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-021-00182-z
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