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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Minguez, Carmen Ayuso
Format: article
Language:EN
Published: Nature Portfolio 2021
Subjects:
Medicine
R
Genetics
QH426-470
Online Access:https://doaj.org/article/720741e99c944b1c8ee4d0d7b5c84e84
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doaj.org/article/720741e99c944b1c8ee4d0d7b5c84e84

Similar Items