/dna-quasi-primes

Repo for human quasi prime case study and manuscript for Mouratidis, Konnaris, Chantzi, and Chan et al.

Primary LanguageJupyter Notebook

quasi-prime-humancasestudy

Repo for human quasi prime case study and manuscript for Mouratidis, Konnaris, Chantzi, and Chan et al. from Dr. Ilias Georgakopolous-Soares Lab at Penn State University.

Data Directory

  • hg38_QPs_genes_symbols.txt (Nucleic Quasi-prime gene symbols - Genes that align with Nucleic quasi-prime regions)
  • allen_all.rds (Allen Brain Institute - Human M1 Primary Motor Cortex)
  • MRCONSO.RRF (UMLS data)
  • gnomad.v2.1.1.all_lofs.txt (Gnomad LoF data)
  • gnomad.v2.1.1.lof_metrics.by_gene.txt (Gnomad LoF data)
  • ENCFF250UJY.bed
  • ENCFF250UJY.tsv
  • hg38_QPs_coordinates.bed
  • hg38_QPs_coordinates.bed_control.bed
  • distributions.zip

Code:

  • qp-singlecell-published.Rmd (R Markdown file for all single cell plots)
  • constraintandpLOF.ipynb (Jupyter Notebook file for constraint and pLOF variant analysis plots)
  • Regulome_plot.ipynb (Jupyter Notebook file for Regulome analysis plots)
  • QP_chipseq_enrichment.ipynb (Jupyter Notebook file for chipseq enrichment analysis plots)
  • QP_extraction/generate_test_data.py (Generate sample data for quasi-prime extraction example)
  • QP_extraction/quasi_prime_extractor.py (Show example of QP_extraction of a single species or taxonomy)
  • tissue_specificity.ipynb (Jupyter Notebook file for quasi-prime gene expression across tissues)
  • distributions/plots.ipynb (Jupyter Notebook file to plot enrichment data in distributions.zip)