Table 2.
Comparison of published RNA-seq studies and their contrasting approaches and results
| Citation | UDN study | Phenotypes | Tissue | Events detected |
Analysis methoda |
RNA-seq diagnostic rate |
|---|---|---|---|---|---|---|
| 35 | No | Neuromuscular | Muscle | Splicing | Candidate + Outlier | 35% |
| 34 | No | Neuromuscular | Muscle, fibroblasts, fibroblast-derived myotubes | Expression, splicing, ASE | Outlier | 36% |
| 29 | Yes | Multiple (neurologic most common) | Whole blood | Expression, splicing, ASE | Outlier | 7.5% |
| 30 | Yes | Multiple (neurologic most common) | Whole blood, fibroblasts, muscle, bone marrow | Expression, splicing, ASE | Candidate | 18% |
| 23 | Yes | Multiple (neurologic most common) | Whole blood, fibroblasts | Expression, splicing, ASE | Outlier | 17% |
a
The candidate method relies on variants first identified on primary WES/WGS to direct RNA-seq analysis. In contrast, the outlier technique identifies novel abnormalities in expression and splicing in a large cohort to direct genomic analysis.
Abbreviation: ASE, allele-specific expression.