You signed in with another tab or window. Reload to refresh your session.You signed out in another tab or window. Reload to refresh your session.You switched accounts on another tab or window. Reload to refresh your session.Dismiss alert
This proposal involves adding a new views to the gnomAD browser that enable users to browser CNV (copy number variant) data for gnomAD v4.
It is expected that these views will be similar to the current Structural Variant interface, so we will re-use many components from that UI with a few modifications:
Exome coverage will be displayed instead of genome coverage
The only SV classes will be DEL and DUP
Include a visual representation of ancestry allele frequency on the gene & variant pages (e.g. use hovering, or have height of variant being proportional to freq, or some other visual representation TBD)
Includes pileup stats for DUP/DELs
Clicking on an exon should center the page around the exon and show a DUP/DEP bar plot with get a granular view of DEL/DUP carrier percentages
Add squiggly lines to variant boundaries because the boundaries are fuzzy
Ensure that including constraint table is not confusing (b/c it is coming from SNVs)
Sketches provided to us:
TODOs:
Matt to provide Jack with SV format example
Jack will determine if he will be providing consequences
Jack sends mock CNV data to browser team in appropriate format
Jack sends pileup data (this will be something new, in MatrixTable format). Sample file should cover same genomic region as the mock CNV results sample
Elissa develops pipeline script
Elissa to develop the new UI
Jack generates histograms
Determine final approval person
Create docs
Write blog post
Launch
The text was updated successfully, but these errors were encountered:
This proposal involves adding a new views to the gnomAD browser that enable users to browser CNV (copy number variant) data for gnomAD v4.
It is expected that these views will be similar to the current Structural Variant interface, so we will re-use many components from that UI with a few modifications:
Sketches provided to us:
TODOs:
The text was updated successfully, but these errors were encountered: