This site shows Paraviewer-generated IGV visualizations from Paraphase, as applied to 19 PTCP samples.
These 19 samples were acquired from Coriell for carrier screening test purposes.
Samples and regions included:
- SMN1 2-copy loss (cases): NA09677, NA10684, NA00232, NA03813
- SMN1 1-copy loss (carriers): HG00281, HG00324, HG01686, HG01773, HG01892, HG00346, HG01612, HG03583, NA20787
- CYP21A2 1 copy gene -> pseudogene conversion: HG00544
- CYP21A2 point mutation (V282L, carrier): HG01887, NA19030
- CYP21A2 point mutation (Q319X, carrier): HG04115, HG01071, HG02717
To view the demo, go to: https://pacificbiosciences.github.io/ParaviewerPTCPDemo/