Fig. 1: Representative alignments from short-read sequencing datasets, showing mobile element insertions in three patients at three independent loci. | Laboratory Investigation

Fig. 1: Representative alignments from short-read sequencing datasets, showing mobile element insertions in three patients at three independent loci.

From: Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Fig. 1

a SDHB exon 3 b NF1 exon 53, and c BRCA2 exon 3. Reads are collapsed and “viewed as pairs” using the Integrative Genomics Viewer with “quick-consensus mode” enabled. Mismatched bases, representing soft-clipped alignments, are colored with respect to the sense strand (T, red; C, blue; A, Green; and G, brown). The “plateau” of increased read coverage coincides approximately with the duplicated nucleotides at the integration site. The y-axis scale for each cumulative read depth plot is labeled. Arrows denote the direction of transcription. Coding nucleotide numbering corresponds to the reported transcript for each gene.

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