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Updated: Jun 18, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Comparison of Affymetrix Gene Array with the Exon Array shows potential application for detection of transcript
Kevin Ch Ha1, Jasmin Coulombe-Huntington, Jacek Majewski
1Department of Human Genetics, McGill University, Montreal, QC, Canada.
The Gene Array effectively measures gene and exon expression, comparable to the Exon Array for detecting alternative splicing and isoform variation. While it covers fewer splicing events, its sensitivity and selectivity are similar for overlapping events.
Area of Science:
- Transcriptomics
- Molecular Biology
- Genomics
Background:
- Isoform-sensitive microarrays enable detailed human transcriptome studies.
- The Affymetrix GeneChip Human Exon 1.0 ST Array (Exon Array) profiles gene expression at the isoform level.
- The newer Affymetrix GeneChip Human Gene 1.0 ST Array (Gene Array) contains a subset of Exon Array probes.
Purpose of the Study:
- To explore the Gene Array's potential for assessing sub-transcript expression variation.
- To compare the Gene Array's performance against the Exon Array in detecting isoform variations.
- To evaluate the Gene Array's utility for alternative splicing analysis.
Main Methods:
- Utilized high-quality Microarray Quality Control (MAQC) RNA samples.
- Compared expression measurements from both Exon Array and Gene Array platforms.
- Modified Gene Array probe set definitions to enable exon-level summarization.
- Analyzed gene expression calls and splicing index for differentially spliced genes.
Main Results:
- Gene Array demonstrated comparable gene expression calls to the Exon Array.
- Highly correlated expression profiles between platforms after modifying Gene Array for exon-level analysis.
- Concordant results for expression calls of known differentially spliced genes.
- Good correlation in splicing index analysis, indicating comparable exon inclusion level estimates.
Conclusions:
- The Gene Array is effective for gene and exon expression profiling, capable of detecting alternative splicing and isoform variation.
- While having reduced gene content coverage compared to the Exon Array, it offers comparable selectivity and sensitivity for monitored splicing events.
- The Gene Array is suitable for researchers interested in gene expression with potential for splicing analysis, but not a substitute for the Exon Array.
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