Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.

ABSTRACT:

Background

Inherited retinal diseases (IRD) are genetically heterogeneous disorders that cause the dysfunction or loss of photoreceptor cells and ultimately lead to blindness. To date, next-generation sequencing procedures fail to detect pathogenic sequence variants in coding regions of known IRD disease genes in about 30-40% of patients. One of the possible explanations for this missing heritability is the presence of yet unidentified transcripts of known IRD genes. Here, we aimed to define the transcript composition of IRD genes in the human retina by a meta-analysis of publicly available RNA-seq datasets using an ad-hoc designed pipeline.

Results

We analysed 218 IRD genes and identified 5,054 transcripts, 3,367 of which were not previously reported. We assessed their puta

SUBMITTER: Ruiz-Ceja KA 

PROVIDER: S-EPMC10111803 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature