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mariya committed Mar 28, 2024
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This is a public repository containing scripts described in the publication:

Lysenkova Wiklander et al.
"A complete digital karyotype of the B-cell leukemia REH cell line resolved by long-read sequencing"
"A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing"

## Data
Sequencing data and BAM files for this project are available at NCBI/SRA under the BioProject accession numbers PRJNA600820 and PRJNA834955. These data have been analyzed on a high performance cluster (HPC) using the commands in `01_hpc_processing`. The resulting analysis datasets are available at https://doi.org/10.5281/zenodo.7702098.
Sequencing data and BAM files for this project are available at NCBI/SRA under the BioProject accession numbers PRJNA600820 and PRJNA834955. These data have been analyzed on a high performance cluster (HPC) using the commands in `01_hpc_processing`. The resulting analysis datasets are available at https://doi.org/10.5281/zenodo.108757278.

## Instructions
The scripts are numbered in the order they should be executed.
The scripts are numbered in the order they should be executed.

### HPC Bash Scripts
For HPC scripts, the full paths to source files have been omitted for simplicity. You will need to adjust them to your environment.
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Install:
- R 4.2.1 and an integrated environment, e.g. RStudio
- R packages: chromoMap, RColorBrewer, VennDiagram
- Python 3.8
- Python 3.8
- Necessary Python packages: `pip install -r requirements.txt`
- SURVIVOR v1.0.7 built from: https://github.com/fritzsedlazeck/SURVIVOR and placed in the directory `02_sv_callset_analysis/bin`

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- pb.sniffles.vcf

data/fusion_callsets/long_read:
- cupcake.long.csv
- cupcake.std.csv
- jaffa_results.csv
- cupcake.long.csv
- cupcake.std.csv
- jaffa_results.csv

data/fusion_callsets/short_read:
- GM12878.fusionreport.txt
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- REH.fusioncatcher.fusion-genes.txt
- REH.pizzly.txt
- REH.squid.fusions.annotated.txt
- REH.starfusion.abridged.tsv
- REH.starfusion.abridged.tsv

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