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Create new PheWAS Catalog evidence table in rewrite version #1232

Closed andrewhercules closed 3 years ago

andrewhercules commented 3 years ago

On the evidence page in the rewrite, can we please create a new data table that displays the PheWAS Catalog evidence data?

Example GraphQL API query NOD2 in respiratory system disease

Data table

Data table column Disease/phenotype Reported disease/phenotype [Phecode] Variant Functional consequence P-value Cases Odds ratio
GraphQL API field evidences.rows[x].disease.name evidences.rows[x].diseaseFromSource evidences.rows[x].variantRsId evidences.rows[x].variantFunctionalConsequenceId evidences.rows[x].resourceScore evidences.rows[x].studyCases evidences.rows[x].oddsRatio
Sample data Respiratory system disease Chronic pharyngitis and nasopharyngitis rs9302752 sequence variant 0.03152 844 0.866

Within the data table, can we please do the following?

  1. Link the value in the "Disease/phenotype" column to the relevant profile page in the Platform
  2. Link the value in the "Variant" column to Ensembl using the following construct - http://www.ensembl.org/Homo_sapiens/Variation/Explore?v= + evidences.rows[x].variantRsId (e.g. rs5743289)
  3. Round the value in the "P-value" and "Odds ratio" columns to 5 decimal points

As a placeholder, in the "Functional consequence" column, we can show the SO code.

QC checks

d0choa commented 3 years ago

It's a known issue that all functional consequences in this datasource have the same value. Don't worry about it. We will fix it at source.

d0choa commented 3 years ago

It's an open question if we want to keep the rsId links consistent with Genetics Portal. Currently pointing to dbSNP in the rewrite. Thoughts?

AsierGonzalez commented 3 years ago

Personally, I find dbSNP more informative but I don't know if we want to give preference to EBI resources.

andrewhercules commented 3 years ago

Can we please make some minor adjustments to the data table?

Table functionality

Table columns

General formatting

External links

Data table number formatting

mirandaio commented 3 years ago

@andrewhercules adjustments have been merged. Feel free to check again and close if done.

andrewhercules commented 3 years ago

With the latest iteration of the GraphQL API, can we please make one small adjustment to the PheWAS evidence table?

Sample query: NOD2 and respiratory system disease

rs5743289 (16_50722863_C_T)

Note that sometimes the variantId value is null

d0choa commented 3 years ago

Changes: