Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 3.
Figure 3.

Association of a multiallelic CNV involving deletion and duplication alleles with gene expression. (A) A multiallelic CNV (chr22:18,763,501–18,789,830) entirely overlapping the PI4KAP1 gene locus was found to be significantly associated with PI4KAP1 expression. (B) Correlations between copy-number genotype and normalized gene expression values for PI4KAP1 (YRI samples). (C) Summary of observed sample abundance and median normalized expression value for each copy-number state.

This Article

  1. Genome Res. 21: 2004-2013

Preprint Server