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Fig. 6 | Genome Medicine

Fig. 6

From: Alternate-locus aware variant calling in whole genome sequencing

Fig. 6

rs2049805. The GWAS hit rs2049805 corresponds to an ASDP defined by an alignment between chromosome 1 of the primary assembly (region MTX1) and the alternate locus GL383519.1, which is identical over a stretch of 49 nucleotides except for the middle position. rs2049805 is significantly associated with blood urea nitrogen levels in east Asian populations [51]. ASDP alignable scaffold-discrepant position

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