Katherine Chao
Katherine Chao
Would it be possible to add the number of samples in the v4.0 exomes subsets (UKB, non-UKB) to the browser? https://docs.google.com/spreadsheets/d/1Nql3eV1WpOwrtjdegNL9pC-5KiYImpvDhHUvLEvmGik/edit#gid=0
Update [v4 downloads](https://gnomad.broadinstitute.org/downloads#v4) to reflect updated files for the v4.1 release: - [Short variants](https://gnomad.broadinstitute.org/downloads#v4-variants): updated Hail Tables and VCFs for exomes, genomes, new joint table - Add new sections/links for...
Julia has been hard at work generating combined frequencies across the exomes and genomes/running statistical tests on these freqs. We would like to add a flag to variants with very...
As part of the gnomAD v4.0 release, we have shifted from using "population" to "genetic ancestry group" based on feedback from the community. I noticed this morning that the API...
Hi all, just following up on today's browser meeting: would it be possible for someone on the team to document the fields present in the browser release HT (not sure...
As discussed in the [project meeting](https://docs.google.com/document/d/109NuIQlZ3a8uw__iBMK7FpoO2bFFGECzEDnBpB1xW8E/edit?usp=sharing) yesterday, Nicole Lake has requested that we add her newly calculated mitochondrial constraint results to the browser. Ideally, we would add her mito gene...
Sam and I received feedback from clinical geneticists that they would like to be able to access regional missense constraint information from the variant pages. Would it be possible to...
False duplications in the GRCh38 reference have impacted variant calling in 3 medically relevant genes: >While previous studies concluded that variant calling performance is generally better on GRCh38 (refs. [34](https://www.nature.com/articles/s41587-021-01158-1#ref-CR34),[35](https://www.nature.com/articles/s41587-021-01158-1#ref-CR35)),...
In the past, we've gotten requests from users asking for the counts of each inferred sex karyotype (XX, XY) per genetic ancestry group. Qin has calculated these counts for v4...
Jack is about to planning to stage updated versions of the v4.1 CNV files (paths [here](https://gnomad.broadinstitute.org/downloads#v4-copy-number-variants)). I've asked him to stage them to the same paths as the current files...