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Fig. 3 | Genome Biology

Fig. 3

From: The Oxford Nanopore MinION: delivery of nanopore sequencing to the genomics community

Fig. 3

Estimate CT47-repeat copy-number on human chromosome Xq24. a BAC end sequence alignments (RP11-482A22: AQ630638 and AZ517599) span a 247-kb region, including 13 annotated CT47 genes [69] (each within a 4.8-kb tandem repeat), and a 50-kb scaffold gap in the GRCh38/hg38 reference assembly. b Nine MinION reads from high molecular weight BAC DNA span the length of the CT47-repeat region, providing evidence for eight tandem copies of the repeat. The insert (dashed line), whose size is estimated from pulse-field gel electrophoresis, with flanking regions (black lines) and repeat region (blue line) are shown. Single-copy regions before and after the repeats are shown in orange (6.6 kb) and green (2.6 kb), respectively, along with repeat copies (blue) and read alignment in flanking regions (gray). The size of each read is shown to its left. c Shearing BAC DNA to increase sequence coverage provided copy-number estimates by read depth. All bases not included in the CT47 repeat unit are labeled as flanking regions (gray distribution; mean of 46.2-base coverage). Base coverage across the CT47 repeats was summarized over one copy of the repeat to provide an estimate of the combined number (dark blue distribution; mean of 329.3-base coverage) and was similar to single-copy estimates when normalized for eight copies (light blue distribution; mean of 41.15-base coverage). (Figure reproduced from Jain et al. [9])

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