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

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 cases. We rep...

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Detalles Bibliográficos
Autores principales: Gupta, Pankhuri, Nakamichi, Kenji, Bonnell, Alyssa C., Yanagihara, Ryan, Radulovich, Nick, Hisama, Fuki M., Chao, Jennifer R., Mustafi, Debarshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412581/
https://www.ncbi.nlm.nih.gov/pubmed/37558662
http://dx.doi.org/10.1038/s41525-023-00366-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412581/
https://www.ncbi.nlm.nih.gov/pubmed/37558662
http://dx.doi.org/10.1038/s41525-023-00366-9

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