Nature research paper: Transcriptome variation in human tissues revealed by long-read sequencing
) Volcano plot from differential gene expression between control and samples with PTBP1 knockdown using ONT data.) Gene expression profile in PTBP1 and PTBP2 genes .) Proportion of different alternative transcript structure events in transcripts upregulated in the control or the PTBP1 knockdown samples.) Correlation between the control and the PTBP1 knockdown samples in the reference ratio of gene expression and transcript structure.
Extended Data Fig. 15 Variant interpretation through novel transcripts and allele-specific transcript structure analysis.) Number of variants per variant effect predictor category using GENCODE v26 protein-coding genes with or without novel FLAIR transcripts.) CADD score distribution of variants that were reassigned to a more severe consequence when the GENCODE gene annotations were complemented with the novel FLAIR transcripts, compared to variants that retained their annotation .
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