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. Author manuscript; available in PMC: 2021 Apr 1.
Published in final edited form as: Nat Rev Genet. 2020 Jun 5;21(10):597–614. doi: 10.1038/s41576-020-0236-x

Figure 6. Long-read platforms can be used to sequence RNA and detect nucleic acid modifications.

Figure 6.

a) Long-read RNA sequencing can be used for full-length isoform discovery. A newly resolved sequence on chromosome 10 of the CHM13 genome (dark blue) revealed a previously undiscovered gene, GPRIN2B (light blue). Using PacBio Iso-Seq, full-length transcripts were identified that completely span GPRIN2B, validating the new gene model. Adapted from Ref. 54. b) The assembly of the entire X chromosome centromere reveals that the majority of the α-satellite repeat region is heavily methylated, except for a ~93 kb hypomethylated region, which was discovered via ONT long-read sequencing of native DNA molecules and subsequent analysis with the methylation detection tool, Nanopolish86. Adapted from Ref. 34.