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TODO
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# Todo
* [ ] Documentation
* [ ] Installation (Snakemake)
* [ ] Using config files
* [ ] Description of all modules
* [ ] Tests
* [ ] Create dataset with observations for the following cases:
* [ ] Deletion
* [ ] Insertions
* [ ] BND
* [ ] SNVs, Indels, hom and het
* [ ] CNV ~ 50kB
* [ ] Ref set for CNV
* [ ] Repeat Expansion
* [ ] Genome Ref
* [ ] Snakemake test cases
* [ ] Automate with GitHub
* [ ] New Modules
* [ ] Modification analysis with https://github.com/EmanueleRaineri/cvlr
* [ ] Docker
* [ ] Create dockerfile
* [ ] Automate with GitHub/DockerHub
* [ ] Integrate dependencies? Docker-Margin-Deepvariant?
* [ ] Circos overview plot
* [ ] CuteSV/Sniffles BND tracks
* [ ] CNVkit depth track
* [ ] CNVkit copy number
* [ ] SNV, Indel density?
* [ ] Loss of Heterozyosity, look in MegSAP for other Tracks
* [ ] Repeat Expansions highlight, with label?
* [ ] Integration to GSVar
* [ ] Either extend supported filenames in GSVAR or change filenames generated by megLR
* [ ] Annotate variants! Either with in House database, which needs to generated or with OMIM/External data
* [ ] Check and maybe reanalyze old projects
* [ ] 20110Ia001 ? Phasing was done
* [ ] Compare reference genomes:
* [ ] GRCh38_alt_decoy
* [ ] GRCh38_core_only
* [ ] T2T_CHM13
* [ ] Change hardlinked executables to conda:
* [X] MultiQC
* [X] Stringtie
* [ ] Minibar
* [ ] Sqanti
* [ ] Make pipeline less IMGAG specific
* [ ] Include CNVkit reference, change ref creation
* [ ] Remove all links to external folders
* [ ] Package all in Docker
* [ ] Remove old and/or broken pathways
* [ ] Mamba support for environment creation
* [ ] Update tool versions (when tests exist)
* [ ] Amplicon (Dual Demux)
* [ ] Demuxed samples should be located on top level
* [ ] Change Variant Calling to Pepper_Margin_DV
* [ ] Error Messages:
* [ ] No target region given for CNVKit
* [ ] No ref given for CNVKit