Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era.
Clemens Falker-GieskePublished in: Human genomics (2023)
The results presented here underline the potential of the T2T-CHM13 assembly in facilitating the discovery of candidate genes from transcriptome data in the context of human disorders. Moreover, the results demonstrate the value of remapping sequencing data to a superior genome assembly. Numerous potential pathology related genes, either as causative factors or related elements, have been unveiled, warranting further experimental validation.
Keyphrases
- endothelial cells
- genome wide
- single cell
- small molecule
- rna seq
- gene expression
- induced pluripotent stem cells
- electronic health record
- high throughput
- pluripotent stem cells
- big data
- dna methylation
- human health
- climate change
- data analysis
- artificial intelligence
- blood brain barrier
- subarachnoid hemorrhage
- cerebral ischemia