Reinforce revealing missing heritability in the gene of inherited retinal diseases / 中华眼底病杂志
Chinese Journal of Ocular Fundus Diseases
;
(6): 521-524, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-995660
ABSTRACT
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Genetic diagnosis has become one essential method for patients with IRD in their clinical management. So far, about 30% of the patients with IRD cannot get molecular diagnosis (no pathogenic variant detected or only mono-allele variant identified in AR genes) using target or whole exome sequencing. Most missing heritability or variants for these patients were variants located in no-coding regions (deep intron or promoter regions) and structure variants of the known IRD genes. It is more challenge to reveal this kind of missing variants, which need using whole genome sequencing combined with other cellular or molecular assays.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Ocular Fundus Diseases
Año:
2023
Tipo del documento:
Artículo
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