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Fig. 5 | Human Genomics

Fig. 5

From: Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes

Fig. 5

The variation of TR expansions. A. The expansion rate is shown up to 20. Left panel, NA18943; right panel, NA19240. Both panels are separated by the reference TR length (< 100 bp, < 500 bp, ≥ 500 bp). B. The number of variants of STRs (2–6 bp). C. The patterns of STR expansions are shown individually by unit length. Elements in both samples with a frequency of at least 10 are displayed. D. Sites of TR expansions surrounding TEs. Red, NA18943; blue, NA19240. Each class is separated into the upper stream (< 100 bp), lower stream (< 100 bp) and inside from the left. In SINE (Alu and MIR), TR expansions often occurred downstream of TE elements. SVAs contained relatively many expansions inside considering the fewer number than in the LINE family

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Human Genomics

ISSN: 1479-7364