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This study investigates the consistency among redundant probe sets interrogating the same gene on the Affymetrix MOE430 GeneChip. It examines P/A call consistency, significance consistency, and fold change consistency, using PKD data as an example. The future work involves establishing a gene model-based analysis and annotating probe sets and probes in relation to gene structure.
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Consistency Assessment among Redundant Probe Sets Interrogating the Same Gene on the Affymetrix MOE430 GeneChip Xiangqin Cui Department of Biostatistics, Section on Statistical Genetics University of Alabama at Birmingham Birmingham, AL 35243
Genome based probe set grouping (GG) Affy grouping (AG) Probe set grouping (Mouse 430 GeneChip) Affy Annotation Match refseq ids Redundant probe sets
Example data: PKD data (7 severe vs 7 mild pkd mice using kidney) 1) P/A call consistency 2) Significance consistency of present redundant probe sets Probe set 1 Significance level is FDR 0.005. Data are from the genes with 2 probe sets per gene according to the GG grouping. Probe set 2 3) Fold change consistency
(Cryl1 crystallin lambda 1 [ Mus musculus ] ) R=0.91; about 0.02% of genes with different FC directions
Future Work • Establish a gene model based analysis in contrast to the current probe-set based analysis • To achieve that, we need to • Annotate all the probe sets and probes in relation to the gene structure • Relationship among redundant probe sets • The causes for the different behavior of redundant probe sets • Annotate more chips and more platforms • Establish software Acknowledgements: Dr. Ann Lorain SSG/Biostatistics and Genetics Dr. Michal Mrug, Medicine/GTM Dr. Lisa Guay-Woodford, Genetics