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. 2015 Apr 20;10(4):e0124579. doi: 10.1371/journal.pone.0124579

Fig 1. Sample ABO gene exonic mutations and phenotpe.

Fig 1

Given the input variants, BOOGIE select all the key mutations specified in the Haplotype table for ABO group that can play a role (in chromosome 9). The tool assigns all heterozygous SNVs to the same chromatid, as this represents the most likely haplotype. As a result, the corresponding proteins will express either the A102 or B101 blood group. Genetic analysis suggests that both antigens will be present in PGP sample hu604D39, which is confirmed by a serological test. It should be noted that the SNVs reported use hg19 as reference, thus differing from the BGMUT definition of A and B blood groups. In addition, not all variants reported are necessary for the final phenotype, as some of them are common for different groups.