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sigven avatar sigven commented on May 30, 2024

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

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jxshi avatar jxshi commented on May 30, 2024

Here is the link to the vcf file. The download link will be valid for 7 days. Thank you!

Cheers!

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sigven avatar sigven commented on May 30, 2024

@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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jxshi avatar jxshi commented on May 30, 2024

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