Figure 3: Circular visualization of phased blocks with phase-specific expression and two phased regions of MHC class II and CYP2D6.
a, Genome-wide map of highly heterozygous regions and expression levels of haplotype A and B in log scale. b, HLA genes in the MHC class II region. This highly variable, complex region contained many SVs, making it difficult to phase against the reference genome, but allowed full resolution through the de novo approach. For detailed comparison, see Extended Data Fig. 7. c, Both haplotypes of CYP2D6 and CYP2D7. A duplicated copy of CYP2D6 was fused with the last exon of CYP2D7 on haplotype B.
