How to View the Trait-based PheWAS Plot ?
When viewing the results of analyses for a single phenotype looking at all linked transcripts, the corresponding pheWAS plot is as described previously, however each point instead specifies a protein-coding transcript of a gene.
For a given phenotype, the analysis reports for all protein coding transcripts whether pLoF burden was associated.
The x-axis is the genomic position of the transcript on GRCh38/hg38, while the y-axis is once again the -log10 P-value of the association between burden genotype and the phenotype in question, multiplied by the direction of the association. So a point above the x = 0 line indicates that loss-of-function increases the phenotype, and a point below x = 0 indicates that loss-of-function decreases the phenotype. Up to 10 significant points will be automatically labelled.
Figure 7: Example pheWAS plot from a trait analysis search.
Previous: How to Search by Trait Analysis?
Next: Transcript Variant Set Analysis - Frequently Asked Questions