Figure 5.
Example of NGS call in RHD. (Left) Whole gene RHD deletions are identified by relative read depth. Homozygotes for RHD deletions have values near the axis (0), hemizygotes exhibit 50% read depth, and individuals with 2 RHD copies have normal read depth. The dashed box indicates a serologic D-negative donor with one copy of RHD. (Right) Integrated genomics viewer (IGV) screen shot of an RHD variant, c.807T>G, identified in the D-negative donor (dashed box). This variant encodes a gain of STOP that has been reported previously (RHD*01N.18). Thus, this individual has one copy of RHD that harbors a known RHD nonsense mutation, explaining the observed D-negative serologic phenotype.