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Fig. 2 | BMC Genomics

Fig. 2

From: ABO allele-level frequency estimation based on population-scale genotyping by next generation sequencing

Fig. 2

Phasing issues: Due to lack of phasing information between exons 6 and 7, the genotype ABO*O.02.01/ABO*B1.01.01 cannot be distinguished from the genotype ABO*O.02.14/ABO*Ax.02.01. For exon 6, sequence 1 may be explained by the alleles ABO*O.02.01 or ABO*O.02.14 (among others). The allele ABO*O.02.01 is composed of exon 6 sequence 1 and exon 7 sequence 1. The allele ABO*O.02.14 is composed of exon 6 sequence 1 and exon 7 sequence 2. Therefore, depending on the phasing between the exonic sequences, different typing results are possible: the rare Swedish A allele ABO*Ax.02.01 (black) in combination with an O allele (ABO*O.02.14) of unknown frequency (red) or the common B allele ABO*B1.01.01 and common O allele ABO*O.02.01 (both green)

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BMC Genomics

ISSN: 1471-2164

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