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[Preprint]. 2023 Mar 6:2023.03.05.531179. [Version 1] doi: 10.1101/2023.03.05.531179

Figure 1. Phasing of ~180–200 kb targets enriched with the HLS-CATCH system.

Figure 1.

A. Experimental workflow (see also Suppl. Fig. 1A). B. A representative example of linked reads obtained with Targeted TELL-Seq. Shown a 186 kb region in the BRCA2 target. Lines (linked reads) join uniquely barcoded short reads (boxes). C. Read profiles (coverage indicated) from TELL-Seq libraries showing robust on-target recovery compared to background. Targets: 200 kb APC and MLH1 targets. Arrowheads represent locations of 3x gRNA binding sites. Black bars represent the APC and MLH1 genes. D. Joint screenshots from the IGV Portal showing TELL-Seq results for the APC target. Tracks (from top to bottom): GIAB phased haplotypes in HG002 (benchmark); phased haplotypes (numbers indicate distances between some phased sites; coverage; inferred haplotype 1; inferred haplotype 2; unphased reads; gene annotations; and inferred phase block.