search

ClinGen / gene-and-variant-curation-tools

ClinGen's gene and variant curation interfaces (GCI & VCI). Developed by Stanford ClinGen team.
https://curation.clinicalgenome.org/
MIT License
3 stars 1 forks source link

Adding Mitochondrial Data in Population Tab #297

Open wrightmw opened 1 year ago

wrightmw commented 1 year ago

When a curator selects a Mitochondrial variant to work on in the VCI, then the population tab should show only mitochondrial allele frequency data. There are two sources:

wrightmw commented 1 year ago

When a variant is mitochondrial , do not return the current population tables in the population tab, but instead produce three different tables of data:

  1. gnomAD (https://github.com/furkanmtorun/gnomad_python_api ?) Return data via gnomAD API. Available in gnomAD v3.

  2. MSeqDr (https://mseqdr.org/) Available via MSeqDr API, and eventually via LDH too.

  3. MitoMAP To return haplogroup frequencies.