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. 2023 Jan 19;110(2):240–250. doi: 10.1016/j.ajhg.2023.01.001

Figure 1.

Figure 1

Visualization of phased SMN1 and SMN2 haplotypes, using HG01884 as an example

Paraphase produces haplotagged bamlets to facilitate examination of haplotypes with all relevant reads realigned to SMN1. Variant positions used in phasing are shown in the top panel and reads are grouped by their assigned haplotypes (IGV option: group by HP tag).