statgen / locuszoom

A Javascript/d3 embeddable plugin for interactively visualizing statistical genetic data from customizable sources.
https://statgen.github.io/locuszoom/
MIT License
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Re-implement constraint table using gnomAD API #177

Closed abought closed 4 years ago

abought commented 4 years ago

Ref: #174

Purpose

Thanks to some assistance from the gnomAD team, we have identified a batch-query API that allows fetching gene constraint information from gnomAD. This reimplements an improved and modernized gene constraint table using the new data source.

Caveats

It appears that gnomAD does not yet have constraint data for build 38. (example: https://gnomad.broadinstitute.org/gene/ENSG00000148737?dataset=gnomad_r3 ) This table will only appear for build 37 datasets. For build 38, the table will not be present on tooltips.

"errors":[{"message":"gnomAD v2.1.1 data is not available on reference genome GRCh38"

TODO

At present, gnomAD has no constraint data for GRCh38, even in the v3 dataset. After deconstructing their API calls, it's not clear how to request different datasets. The error message we get on requesting build 38 data refers to dataset 2.1.1, even in gnomad v3. It's possible that the error message is unclear.

We will reach out to the gnomAD team. Since this would be no worse than the current system, it is a target for future improvement, but not a blocker for this release.