Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases

Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases

Abstract Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive inherited retinal diseases (IRDs), reclassification of variants of uncertain significance (VUS) can provide a genetic diagnosis in indeterminate compound heterozygote case...

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Bibliographic Details
Main Authors: Pankhuri Gupta, Kenji Nakamichi, Alyssa C. Bonnell, Ryan Yanagihara, Nick Radulovich, Fuki M. Hisama, Jennifer R. Chao, Debarshi Mustafi
Format: Article
Language:English
Published: Nature Portfolio 2023-08-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-023-00366-9

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https://doi.org/10.1038/s41525-023-00366-9

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