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Merge pull request #50 from friendsofstrandseq/dev
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2.2.2: IGV genome browsing, scTRIP multiplot & fixes
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weber8thomas authored Sep 22, 2023
2 parents 66ccead + bf295e4 commit e2113c9
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4 changes: 4 additions & 0 deletions .gitignore
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Expand Up @@ -215,3 +215,7 @@ workflow/data/arbigent/scTRIP_segmentation.bed
.tests/data_CHR17/RPE-BM510/bam/*.bam.sort
.tests/external_data/chr17.fa.log
LOGS_DEV/

# scTRIP multiplot
workflow/scripts/plotting/scTRIP_multiplot/scTRIPmultiplot
workflow/config/scTRIP_multiplot.ok
20 changes: 10 additions & 10 deletions .pre-commit-config.yaml
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Expand Up @@ -9,13 +9,13 @@ repos:
# id: no-commit-to-branch
repo: https://github.com/pre-commit/pre-commit-hooks
rev: v3.4.0
- hooks:
- id: snakefmt
repo: https://github.com/snakemake/snakefmt
rev: 0.4.0
- hooks:
- id: commitizen
stages:
- commit-msg
repo: https://github.com/commitizen-tools/commitizen
rev: v2.17.12
# - hooks:
# - id: snakefmt
# repo: https://github.com/snakemake/snakefmt
# rev: 0.4.0
# - hooks:
# - id: commitizen
# stages:
# - commit-msg
# repo: https://github.com/commitizen-tools/commitizen
# rev: v2.17.12
17 changes: 15 additions & 2 deletions .tests/config/simple_config.yaml
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Expand Up @@ -3,10 +3,10 @@
# --------------------------------------------------------

# MosaiCatcher version
version: 2.2.1
version: 2.2.2

# Ashleys-QC pipeline version
ashleys_pipeline_version: 2.2.1
ashleys_pipeline_version: 2.2.2

# Email for notifications about the pipeline's status
email: ""
Expand Down Expand Up @@ -157,6 +157,11 @@ additional_sce_cutoff: 20000000
# SCE min distance
sce_min_distance: 500000

# --------------------------------------------------------
# Downstream modules configuration - genome browsing
# --------------------------------------------------------
genome_browsing_files_generation: False

# --------------------------------------------------------
# Downstream modules configuration - ArbiGent
# --------------------------------------------------------
Expand Down Expand Up @@ -211,6 +216,14 @@ plottype_clustering:
- "position"
- "chromosome"

scTRIP_multiplot: False

# --------------------------------------------------------
# StrandScape
# --------------------------------------------------------

use_strandscape_labels: False

# --------------------------------------------------------
# Internal Parameters
# --------------------------------------------------------
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16 changes: 12 additions & 4 deletions README.md
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Expand Up @@ -22,7 +22,7 @@ the workflow goes through the following steps:

| ![summary](docs/images/figure_pipeline.png) |
| :--------------------------------------------------------------------------------: |
| _MosaiCatcher snakemake pipeline_ |
| _MosaiCatcher snakemake pipeline and visualisations examples_ |
| _[ashleys-qc-pipeline](https://github.com/friendsofstrandseq/ashleys-qc-pipeline)_ |

# 📘 Documentation
Expand All @@ -49,6 +49,7 @@ the workflow goes through the following steps:
- [x] Version synchronisation between ashleys-qc-pipeline and mosaicatcher-pipeline ([1.8.3](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.8.3))
- [x] Report captions update ([1.8.5](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.8.5))
- [x] Clustering plot (heatmap) & SV calls plot update ([1.8.6](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.8.6))
- [x] [`ashleys_pipeline_only` parameter](/docs/usage.md#usage): using mosaicatcher-pipeline, trigger ashleys-qc-pipeline only and will stop after the generation of the counts, ashleys predictions & plots to allow the user manual reviewing/selection of the cells to be processed ([2.2.0](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.2.0))
- [ ] Plotting options (enable/disable segmentation back colors)

## Bioinformatic-related features
Expand All @@ -59,15 +60,20 @@ the workflow goes through the following steps:
- [x] Ploidy detection at the segment and the chromosome level: used to bypass StrandPhaseR if more than half of a chromosome is haploid ([1.7.0](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.7.0))
- [x] inpub_bam_legacy mode (bam/selected folders) ([1.8.4](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.8.4))
- [x] Blacklist regions files for T2T & hg19 ([1.8.5](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.8.5))
- [x] ArbiGent integration: Strand-Seq based genotyper to study SV containly at least 500bp of uniquely mappable sequence ([1.9.0](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.9.0))
- [x] scNOVA integration: Strand-Seq Single-Cell Nucleosome Occupancy and genetic Variation Analysis ([1.9.2](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.9.2))
- [x] [ArbiGent](/docs/usage.md#arbigent-mode-of-execution) integration: Strand-Seq based genotyper to study SV containly at least 500bp of uniquely mappable sequence ([1.9.0](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.9.0))
- [x] [scNOVA](/docs/usage.md#scnova-mode-of-execution) integration: Strand-Seq Single-Cell Nucleosome Occupancy and genetic Variation Analysis ([1.9.2](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.9.2))
- [x] [`multistep_normalisation` and `multistep_normalisation_for_SV_calling` parameters](/docs/usage.md#multistep-normalisation) to replace GC analysis module (library size normalisation, GC correction, Variance Stabilising Transformation) ([2.1.1](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.1.1))
- [x] Strand-Seq processing based on mm10 assembly ([2.1.2](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.1.2))
- [x] UCSC ready to use file generation including counts & SV calls ([2.1.2](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.1.2))
- [x] `blacklist_regions` parameter: ([2.2.0](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.2.0))
- [x] IGV ready to use XML session generation: ([2.2.2](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.2.2))
- [ ] Pooled samples

## Small issues to fix

- [ ] Move pysam / SM tag comparison script to snakemake rule
- [x] replace `input_bam_location` by `data_location` (harmonization with [ashleys-qc-pipeline](https://github.com/friendsofstrandseq/ashleys-qc-pipeline.git))
- [x] List of commands available through list_commands parameter ([1.8.6](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/1.8.6)
- [x] Move pysam / SM tag comparison script to snakemake rule ([2.2.0](https://github.com/friendsofstrandseq/mosaicatcher-pipeline/releases/tag/2.2.0))

# 🛑 Troubleshooting & Current limitations

Expand Down Expand Up @@ -103,3 +109,5 @@ the workflow goes through the following steps:
> ArbiGent publication: Porubsky, David, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, et al. 2022. “Recurrent Inversion Polymorphisms in Humans Associate with Genetic Instability and Genomic Disorders.” Cell 185 (11): 1986-2005.e26. https://doi.org/10.1016/j.cell.2022.04.017.
> scNOVA publication: Jeong, Hyobin, Karen Grimes, Kerstin K. Rauwolf, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Eva Benito, et al. 2022. “Functional Analysis of Structural Variants in Single Cells Using Strand-Seq.” Nature Biotechnology, November, 1–13. https://doi.org/10.1038/s41587-022-01551-4.
> scNOVA publication: Jeong, Hyobin, Karen Grimes, Kerstin K. Rauwolf, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Eva Benito, et al. 2022. “Functional Analysis of Structural Variants in Single Cells Using Strand-Seq.” Nature Biotechnology, November, 1–13. https://doi.org/10.1038/s41587-022-01551-4.
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