Katherine Chao
Katherine Chao
The code for sex imputation refinement relies on both chromosome X and chromosome Y ploidy now that https://github.com/macarthur-lab/gnomad_hail/pull/127 has been merged. The code to generate chrX/Y ploidy exists for sparse...
I noticed the joint frequency statistics help page has been released (https://gnomad.broadinstitute.org/help/combined-freq-stats) and went to check it out. On the page, I noticed two small things: Would it be possible...
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...
Ticket tracking requests/feedback associated with v4.1 demo browser - [x] Add the test name (Cochran–Mantel–Haenszel) to the hover over text in the discrepant frequencies flag - [x] Shift the p-value...
Update flags page to include description for two new flags on the variant page: the no variant called flags (in exomes or genomes) and discordant frequency flag
The current gnomAD [home page](https://gnomad.broadinstitute.org/) looks like this: There are two urgent requests from Heidi: - Would it be possible to add a fourth bullet to this page -- "Browse...
Updates: - Remove references to joint annotations from exomes/genomes release HTs - Add schema + description for new joint frequency HT - Update v4.0 > v4.1 - Clean up messy...
Thank you for adding button clicks to our analytics -- it's great to see how many users click on the pex expansion button! Would it be possible to also track...
Very long context: Variants that are only present in one data type (exomes or genomes) currently only display frequencies in a single data type. For example:  https://gnomad.broadinstitute.org/variant/2-151663543-C-T?dataset=gnomad_r4 only shows...
The v4.0 SV and CNV files currently have annotations in the order `_` rather than the format the short variant team uses (`_`). For example, one of the annotations in...