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Fig. 4 | Genome Biology

Fig. 4

From: PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

Fig. 4

Overview across the 192 medically relevant, challenging genes. A Mappability vs coverage representation across the 192 hard to assess medical regions, highlighting the ability of long reads and PRINCESS to map the reads across these genes. B Variant calling (SNV: circles, SV: triangles) does not seem to be affected by the repetitiveness (GIAB Mappability) across these 192 regions. Furthermore, PRINCESS is able to successfully phase the majority of the genes indicated by color (number of phase blocks). C HLA gene showing phased reads across 5 phase blocks (bottom) over the full region. D PRINCESS is able to phase variants and reads across the entire HYDIN gene (431 kbp). E GBA and GBAP1 pseudogene in 36-kb regions showing both haplotypes aligned reads and the phased SNVs and indels

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