gnomad-browser
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Update browser for gnomAD v4.1 (checklist)
Ticket to track various v4.1 data loading / update requests
Loading requests:
- [x] #1439 | (@phildarnowsky-broad) Update code parsing SV and CNV files to accommodate updates, including updated metrics order, updated genetic ancestry terms, update from using gender to sex karyotype and reload SV, CNVs
- [x] (@rileyhgrant) Load demo with PCSK9 (see thread) to get feedback on new flags below
- [x] (@rileyhgrant) Load demo that contains only new gene constraint results (HT path shared here;
gs://gnomad/v4.1/constraint/metrics/gnomad.v4.1.constraint_metrics.ht
) - [ ] #1463 | (@rileyhgrant, @nadeaujoshua) Reload short variant exome and genome data
- [ ] #1443 | (@rileyhgrant) Update downloads page links to point to new data
- [ ] (riley to merge PRs, work done by methods team -- thank you!) Apply changes to help pages; current PRs:
- [ ] #1430 | HT help page -- Qin added a few minor edits due to the slightly tweaked joint freq HT schema
- [x] #1433 | v4.0>v4.1 updates -- this PR has been approved and is ready to go (note that I added a minor update to the dataset selection page on Apr 4)
- [x] #1456 | Exome capture regions
- [x] #1465 | describe new joint freq stats
- [ ] #1476 | Add new flags to flags help page (new PR)
- [ ] #1448 (@phildarnowsky-broad)| Make non-ukbb a selectable subset
Updates:
- [x] #1423 | (@rileyhgrant) Add new flag indicating when a variant was not called in any data type
- [x] #1442 | (@rileyhgrant) Add new flag for variants with discrepant frequencies between the exomes and genomes
- [ ] #1440 | (@rileyhgrant) Update stats page to include number of samples in the two of the v4.0 exomes subsets
- [x] #1458 | (@rileyhgrant) Not necessarily v4.1, but update typos on stats page
- [ ] (no issue) | (@rileyhgrant) Update stats page to include average number of SNVs per person (still being calculated) -- edit to add that this has been pushed to post-v4.1 (hoping to have shortly afterwards)
- [ ] (no link yet) Release v4.1 blog post when v4.1 data are loaded (methods team to stage, review, and approve staged post; will add link to PR when it exists)
Feedback
- [x] #1475 | (@rileyhgrant) ticket tracking feedback on v4.1 demo browser
Will add updates if I've missed anything and as we create links for some of the topics above!
Also including v4.1 release checklist