Comments (4)
Hi @jxshi,
Thanks for using CPSR! I am in the process of releasing a major upgrade of cpsr
. If you can share your VCF with me, I can demonstrate how the new report will look.
best,
Sigve
from cpsr.
Here is the link to the vcf file. The download link will be valid for 7 days. Thank you!
Cheers!
from cpsr.
@jxshi, (cc @brucemoran)
I have uploaded an example report of your VCF from a CPSR run (v 0.4.0 - soon to be pushed to GitHub) here. Make sure you download the file to view the contents properly (Dropbox cannot show the HTML fully).
PS. CPSR/PCGR is not fond of multiallelic variants (unfortunately a common output by GATK). Ideally these records should be decomposed prior to your run
In summary, the new version of CPSR will
- make reports that are better structured according to the five-level classification scheme
- have a more comprehensive classification for variants not recorded in ClinVar (see Documentation part of the report)
- carry flexibility for the cancer predisposition geneset: users can choose from > 30 different "virtual gene panels" from Genomics England PanelApp in order to more flexibly interrogate a predisposition gene set of interest
thanks,
Sigve
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Related Issues (20)
- Unused arguments in crosstalk::filter_slider HOT 16
- Trio Analysis HOT 1
- Failed to instantiate plug in LoF HOT 3
- Custom panel HOT 11
- ERROR while running HOT 3
- cpsr_validate_input.py: error: argument vcf_validation: invalid int value: '/home/zdjzyx01/biosoft/cpsr/cpsr.toml' HOT 11
- Missed variant due to transcript pick? HOT 9
- cpsr_configuration_default.toml missing from PCGR data HOT 2
- Error: Problem with `mutate()` input `ACMG_PVS1_1`. HOT 4
- Error in loadNamespace(name) : there is no package called 'reactable' HOT 2
- x object 'GWAS_CITATION' not found HOT 3
- ImportError: No module named toml HOT 1
- minor typo in src/cpsr_functions.R HOT 1
- Error: `x` and `y` must share the same src HOT 5
- genes being excluded from CPSR exploratory track HOT 5
- Not able to download the data bundles (404 Error) HOT 2
- ACMG guideline updated to version 3.0. New genes were added to the secondary finding gene list. HOT 2
- make infromation like ckb to cpsr HOT 4
- Encounter the error in cpsr-report-generation() HOT 3
- Installation Instructions Only Describe Conda HOT 2
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