Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients

Inherited retinal degenerations (IRDs) are a heterogeneous group of predominantly monogenic disorders with over 300 causative genes identified. Short-read exome sequencing is commonly used to genotypically diagnose patients with clinical features of IRDs, however, in up to 30% of patients with autos...

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Detalles Bibliográficos
Autores principales: Nakamichi, Kenji, Van Gelder, Russell N., Chao, Jennifer R., Mustafi, Debarshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219926/
https://www.ncbi.nlm.nih.gov/pubmed/37237007
http://dx.doi.org/10.1038/s41598-023-35791-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219926/
https://www.ncbi.nlm.nih.gov/pubmed/37237007
http://dx.doi.org/10.1038/s41598-023-35791-4

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