Abstract
In order to help resolve the clinical significance of variants predicted to alter splicing patterns, and identify splice-altering variants in regions outside of the reportable range of routine hereditary cancer DNA sequencing tests, we initiated an IRB-approved RNA-sequencing research study at Invitae. The study was designed to address four distinct aims. First, we wanted to develop a robust and reliable approach for analyzing splicing changes in whole blood for a maximum number of genes included in Invitae's 84 gene Multi-Cancer panel.
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