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Issue tracker for Open Targets Platform and Open Targets Genetics Portal
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24.03 docs and comms #3223

Closed buniello closed 3 months ago

buniello commented 4 months ago

Ahead of Platform/PPP 24.03 release, we will have to update/build the following documentation pieces:

ireneisdoomed commented 4 months ago

April from EVA and I would like to write a blogpost to introduce the PharmGKB data, if that is of any interest @HelenaCornu

HelenaCornu commented 4 months ago

Always! Do you think you can have a draft ready in ~1 month? Then we could publish it for the release

HelenaCornu commented 3 months ago

@ireneisdoomed Please could I have the following metrics for the blogpost? Just confirming exact numbers for some of the things mentioned in the team meeting:

Thank you! 🚀

ireneisdoomed commented 3 months ago

@HelenaCornu

  1. 2,871,198 of evidence with an assessment. Breakdown:
    (
    evd.filter(
        (f.col("directionOnTrait").isNotNull()) | (f.col("variantEffect").isNotNull())
    )
    .groupBy("variantEffect", "directionOnTrait")
    .agg(
        f.count("*").alias("count"),
        f.collect_set("datasourceId").alias("datasourceIds"),
    )
    ).orderBy("variantEffect").show(truncate=False)
    +-------------+----------------+-------+----------------------------------------------------------------------------------------------------------------+
    |variantEffect|directionOnTrait|count  |datasourceIds                                                                                                   |
    +-------------+----------------+-------+----------------------------------------------------------------------------------------------------------------+
    |null         |risk            |399749 |[eva, orphanet, intogen, ot_genetics_portal, gene2phenotype, eva_somatic, cancer_gene_census]                   |
    |null         |protect         |202008 |[eva, ot_genetics_portal, chembl, eva_somatic]                                                                  |
    |GoF          |risk            |70354  |[orphanet, intogen, ot_genetics_portal, gene2phenotype, cancer_gene_census]                                     |
    |GoF          |protect         |141128 |[ot_genetics_portal, chembl]                                                                                    |
    |LoF          |risk            |1437593|[impc, eva, orphanet, intogen, ot_genetics_portal, gene2phenotype, gene_burden, eva_somatic, cancer_gene_census]|
    |LoF          |null            |41034  |[eva, ot_genetics_portal, gene_burden, eva_somatic]                                                             |
    |LoF          |protect         |579332 |[eva, ot_genetics_portal, gene_burden, chembl]                                                                  |
    +-------------+----------------+-------+----------------------------------------------------------------------------------------------------------------+
  2. 932 targets with known liabilities.
    • Data from PGX for 541 targets
    • 429 of them as the only source