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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| 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 |