Fig. 2: Study design and statistics of the trio-based nanopore sequencing. | Communications Biology

Fig. 2: Study design and statistics of the trio-based nanopore sequencing.

From: Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology

Fig. 2

a Design of the SV analysis in this study. Activated T cells were established from 333 individuals comprising 111 trios and subjected to whole-genome sequencing using a nanopore sequencer. b, c Distribution of read length N50 (b) and average coverage of aligned reads (c). The dotted lines show the mean values, and the mean ± SD is indicated in the panel. d Number of DEL (red) and INS (blue) SVs located on autosomes per individual. Mean ± SD is indicated in parentheses. e Size distribution of the DELs (red) and INSs (blue). The left and right panels indicate the distribution of SVs with sizes from 50 to 500 bp (bin = 10 bp) and sizes from 500 bp to 15 kb (bin = 300 bp), respectively. Notable peaks due to transposable elements (Alu, SINE/VNTR/Alu [SVA], and LINE-1) are shown as arrows. The numbers of DELs (red) and INSs (blue) are shown in parentheses. f Scatterplot showing the relationship between the N50 length and mean DEL (red) and INS (blue) length. The Pearson correlation coefficient (cor) and P values are shown (n = 333).

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