knowledgesystems / signal

Somatic Integration of Germline Alterations in cancer
https://www.signaldb.org/
MIT License
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Feature request to show "germline biallelic" statistics in the portal #112

Closed leexgh closed 3 years ago

leexgh commented 3 years ago

Moved from: https://github.com/genome-nexus/genome-nexus-importer/issues/43

Show "# germline homozygous" in gene and variant level pages.

In the variant level page, show "% germline homozygous" in the "cancer patient prevalence field. This data is in "signal.pancancer_somatic_germline_stats.txt" file. For example:

~~in https://www.signaldb.org/variant/1:g.45797228C%3ET cancer patient prevalence: Germline 0.8% (Biallelic: 18.4%, Germline homozygous: 0.02%)~~

Thank you.

leexgh commented 3 years ago

Questions:

  1. We are not using signal.cancertype_specific_somatic_germline_stats.txt anywhere, right?
  2. For the same variant, sum(signaldb_variants_by_cancertype_summary_statistics.txt) != signaldb_all_variants_frequencies.txt?
  3. Column description?

Known issues:

  1. http://localhost:3080/gene/ABL1 crashes
  2. Sorting in http://localhost:3080/variant/9:g.133729620T%3EG is not perfect
  3. need to add a mixin to rename ngermlineHomozygous to nGermlineHomozygous (fix other fields likenwithSig)