Adam Coffman

Results 55 comments of Adam Coffman

Based on your Dockerfile it looks like you're serving the rails app directly with WEBrick (the default when using `rails server` and just in the ruby stdlib). That is not...

This tag will be self-reported. The idea of a "civic expert editor" will be admin specified at the user level and be a separate concept. "civic expert editors" will appear...

Yeah, I totally agree - right now the endpoint is returning what @jmcmichael needs to power the various views in the frontend - but that's not likely to be exactly...

In addition to allowing a secondary gene, we will need users to be able to specify which set of coordinates (1 or 2) is associated with the primary and secondary...

@kkrysiak support for it exists, but the backfill of existing aliases isn't complete. Should be pretty straightforward

So looking at the illumina data, this matched on both `beMarkerId` (V600K) and coordinates `7:140453136-140453137 AC -> TT`. For this variant they have an rsid of `rs113488022` and `aminoAcidChange` of...

For https://civic.genome.wustl.edu/events/genes/19/summary/variants/1006/talk/revisions/list/15041/summary#variant The coordinates don't appear to line up, nor does the aminoAcidChange, but these matched up on beMarkerID (L747_A750>P).

This seems reasonably straightforward to implement; basically like a flag.

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=clinvar&id=65533&retmode=json Their JSON endpoint actually seems to have issues escaping the `>` in HGVS, maybe we should just use the XML endpoint they provide: https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=clinvar&id=65533

Example json endpoint for the namechecker: `https://mutalyzer.nl/json/runMutalyzer?variant=` the JSON api is undocumented, but the mutalyzer site indicates it follows the SOAP API somewhat closely. Those docs can be found here:...