DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools

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Figure 5.
Figure 5.

Organization of the HG002 telomere. (Top) HG002 PacBio Fiber-seq with genetic variants, m6A methylation (purple), and CpG-methylation (brown) overlaid for fibers overlapping the maternal telomere of Chromosome 13q (telomeric boundaries were determined with seqtk v1.3). Telomeric sequences (blue), telomeric variants (red), and nontelomeric sequences (gray) are highlighted to show telomeric genetic variation. ONT (Middle) and PacBio (bottom) standard sequencing of HG002 telomeres (Zook et al. 2020) with CpG-methylation overlaid on chromatin architecture.

This Article

  1. Genome Res. 34: 1976-1986

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