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Fig. 5 | Genome Medicine

Fig. 5

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

Fig. 5

Distribution of ASDP-associated variants called against the primary assembly. A significantly and substantially higher number of ASDP-associated variants are called against the primary assembly according to whether the region is inferred to be REF-HAP or ALT-HAP by the ASDPex algorithm. The data appear to fall into two well-separated clusters. The figure shows the counts of Ref/Alt ASDP-associated variants per megabase for seven selected regions for the 121 in-house genomes. * p<1×10−8; ** p<1×10−10 (Mann–Whitney test). ASDP alignable scaffold-discrepant position

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