Skip to content
This repository has been archived by the owner on Jan 18, 2020. It is now read-only.

Add HGMD at the gene level #219

Open
mitalia opened this issue Apr 3, 2014 · 0 comments
Open

Add HGMD at the gene level #219

mitalia opened this issue Apr 3, 2014 · 0 comments

Comments

@mitalia
Copy link
Contributor

mitalia commented Apr 3, 2014

While we're working to get HGMD linkages completed through the HGVS nomenclature work, we should provide end-users with a list of variants at the gene level that are in HGMD. Similar to how we have broken apart phenotypes into gene-level phenotypes and variant-level, HGMD mutations should also be listed to avoid missing anything. This requires a secondary mapping be created so that users can also filter by this (I.e. instead of things just being "in hgmd", they can filter by "variant in HGMD" and "gene in HGMD")

Sign up for free to subscribe to this conversation on GitHub. Already have an account? Sign in.
Projects
None yet
Development

No branches or pull requests

2 participants