Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

hg38 tracks on a track hub #5

Open
maximilianh opened this issue Mar 7, 2023 · 3 comments
Open

hg38 tracks on a track hub #5

maximilianh opened this issue Mar 7, 2023 · 3 comments
Labels
UCSC-GB UCSC Genome Browser Group support

Comments

@maximilianh
Copy link

maximilianh commented Mar 7, 2023

Hi,

the following things would be good to see on a hg38 track, to give people an idea how HPRC relates to the reference genome. The goal is that a genetics curator can see "does HPRC have anything for me of value in this gene or this exon"

  1. Long Variants: long (structural) variants = these are in no database yet. This looks as the most important goal.
    b) Julian has VCF (?) for this, determine what the format is and load as bigBed, run by Ana Benet Pages and possibly other genetics folks to display in a way optimal for them.
    c) details page points to HPRC track hub genomes

  2. Short Variants: short variants with full phasing using Angie's VCF tree display. These will land in Gnomad but may not yet.
    a) Julian has VCF for that on hg38 - very easy to load this file

  3. genes: not necessary but would be nice = summarize changes that happen to genes
    a) first find out: is this worth it - how many are affected?
    b) color genes by whether they change in copy number: no item = no change. Blue = copy increase, red = copy decrease. Details page with links to where they are in HPRC and links to HPRC track hub.
    c) run by genetics folks like Ana to see if they agree with the display

@maximilianh
Copy link
Author

@diekhans

@maximilianh
Copy link
Author

@juklucas

@diekhans diekhans added the UCSC-GB UCSC Genome Browser Group support label Mar 7, 2023
@diekhans
Copy link
Collaborator

These are tracks for the UCSC hg38 browser @juklucas

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
UCSC-GB UCSC Genome Browser Group support
Projects
None yet
Development

No branches or pull requests

2 participants