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lorals_paper_code

Data tables and scripts for Transcriptome variation in human tissues revealed by long-read sequencing.

Overview of repository

  • data/: Publicly available data used in this pipeline
  • analysis/: Data tables organized by analysis generated throughout the pipeline (some small tables are included)

Analyses included

  • Qualitative control:
    • Qualitative control by NanoPlot
    • Three prime bias using the mitochondrial transcripts
    • Overview of the dataset aligned to GENCODEv26
  • Call new transcript with flair:
    • Flair and TransDecoder pipeline to call novel transcripts
    • Comparison of FLAIR novel transcripts to other datasets
    • Overview of the dataset aligned to FLAIR
  • Differential transcripts across tissues:
    • Differential transcript expression and usage across tissues
  • Allelic analysis:
    • Analysis of allelic counts from genes and transcripts
    • Comparison to GTEx eQTLs and sQTLs
    • Stratification by alternative transcript structure event
    • Analysis of enloc
  • PTBP1 knockdown:
    • Allele analysis in fibroblast cell lines with PTBP1 KD
    • Comparison to ENCODE eCLIP sites
  • Variant interpretation and rare variant analysis:
    • Variant annotation using new flair transcripts
    • Rare variant interpretation using new flair transcripts