Gene Expression Profiling in ECO Syndrome
Author Information
Author(s): Lahiry Piya, Lee Leo J., Frey Brendan J., Rupar C. Anthony, Siu Victoria M., Blencowe Benjamin J., Hegele Robert A.
Primary Institution: Robarts Research Institute, London, Ontario, Canada
Hypothesis
How do gene expression patterns differ in fibroblasts from patients with ECO syndrome compared to unaffected individuals?
Conclusion
mRNA-seq is more sensitive and accurate than microarray for identifying differentially expressed genes in ECO syndrome.
Supporting Evidence
- mRNA-seq identified more differentially expressed genes than microarrays.
- Correlation with qRT-PCR was better for mRNA-seq than for microarrays.
- Both platforms showed high numbers of differentially expressed genes in ECO-affected fibroblasts.
Takeaway
Scientists looked at the genes in skin cells from kids with a rare disease and found that a special test showed more differences than an older test.
Methodology
The study used cDNA microarrays and next-generation mRNA sequencing to profile gene expression in skin fibroblasts from ECO patients and controls.
Potential Biases
There may be biases in gene expression results due to the reliance on specific technologies.
Limitations
The study was limited by the small sample size and the potential for false negatives in microarray data.
Participant Demographics
The study included two ECO-affected individuals and one unaffected control from the Amish community.
Statistical Information
P-Value
P<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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