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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Ocular Fundus Diseases
Ano de publicação:
2023
Tipo de documento:
Artigo
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