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Fig. 5 | Genome Biology

Fig. 5

From: Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome

Fig. 5

Phasing performance. a Read alignment at synthetic haplotype blocks with multiple heterozygous variants representing a pair of alleles from chromosome 20. The histogram shows the depth of coverage at each position, with aligned reads shown below. The assembled haplotype blocks (boxes) obtained with the different sequencing technologies/preparation methods are shown below the sequencing reads, with the reads supporting the assemblies being highlighted. b Distribution of observed lengths for resolved haplotype blocks according to different sequencing technologies/preparation methods. c Fraction of phased variants relative to pairwise variant distance. d Size distribution for DNA fragments in the short-read libraries. a, b The colors represent the different sequencing technologies/preparation methods used to generate each of the seven sequenced libraries, such as HiSeq X Ten/PCR-free (purple), HiSeq 2500/PCR-based (red), NextSeq 500/PCR-based (blue), MGISEQ-2000 (yellow), and ONT PromethION (green)

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