/a5_sdhb_pcpg

This repository holds the bioinformatic code for the American, Australian, Asian Adrenal Alliance (A5) SDHB pheochromocytoma and paraganglioma genomics project

Primary LanguageR

Purpose

This repository contains the code for all analysis presented in the publication Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.

Structure

The main folders are named for a data-type including:

  • Whole Genome Sequencing (wgs)
  • Whole Transcriptome Sequencing (wts)
  • Illumina EPIC methylation profiling (methylation)
  • Small-RNA sequencing (small_rna)
  • Single-nuclei ATAC sequencing (sn_atac_seq)
  • Single-nuclei RNA sequencing (sn_rna_seq)
  • Sample annotation (sample_annotation)
  • Tertiary analysis involving integration of multiple data types (tertiary)

Sub-Structure

Within each data-type folder there can be the following subfolders:

  • analysis: Contains code for primary analysis of data, such as sequence alignment or feature counting
  • scripts/
    • data_loaders: Dataloader scripts encapsulate data loading and preprocessing steps, such as reading in files, normalisation, and filtering
    • data_mergers: Data merger scripts combine multiple datasets of the same type from different sources, e.g publicly available datasets
    • figures: these scripts contain the code to reproduce the figures as presented in the manuscript

Additional folders

  • external_dataloaders: Contains data loaders to load and preprocess publicly available datasets
  • utility_scripts: Helper scripts used by one or more other scripts