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Consider gene resource to link out to #17

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AnneCarpenter opened this issue Feb 8, 2024 · 4 comments
Open

Consider gene resource to link out to #17

AnneCarpenter opened this issue Feb 8, 2024 · 4 comments
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enhancement New feature or request jump_rr Related to query dataset generation

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@AnneCarpenter
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I was showing a colleague who is working on a couple of diseases associated with the gene DLG4. I noticed that the NCBI link we use doesn't list the diseases associated with a gene, which is an odd omission:
https://www.ncbi.nlm.nih.gov/gene/1742

By contrast, GeneCards does (but is only available for use by academics):
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG4

So I wonder if we could chat with people who think about these databases all the time to find one that is completely openly available but also has disease info.

@afermg afermg added jump_rr Related to query dataset generation enhancement New feature or request labels Apr 8, 2024
@afermg
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afermg commented Apr 8, 2024

(I presume this is about the jump_rr interfaces). To implement such a feature the main challenge is to ensure that the gene ID we have corresponds to the genecards id. Depending of how much of a priority this is I may be able to allocate some time to find an accurate translator and add that external resource to our datasettes.

@AnneCarpenter
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Not a priority - and the first step would be to decide which source to link to; GeneCards may not be the best choice anyway.

@afermg
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afermg commented Jan 15, 2025

So I wonder if we could chat with people who think about these databases all the time to find one that is completely openly available but also has disease info.

Seems like a good time to tackle this. Will get onto it.

@afermg
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afermg commented Jan 21, 2025

These are the resources that seem worth adding:

  • OMIM: Literature-based summaries with references, uses its own mapping, but we were provided a mapper
  • Gene cards: Good general summary, indexed by gene name
  • Ensembl: Splice variants, phenotypes, comparative genomics. Uses its own index.
  • UCSC Genome Browser: Deep-dive to multiple omics. Indexed by its own internal numbers. Need to find a way to map.

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Labels
enhancement New feature or request jump_rr Related to query dataset generation
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