James Stevenson

icon indicating a website link https://jsstevenson.github.io/ icon indicating an email [email protected]

icon company Nationwide Children's Hospital icon location Columbus, OH icon location bioinformatics software developer @GenomicMedLab

Results 74 comments of James Stevenson

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moving to new PR

Request for new ontology [Exercise Medicine Ontology]

Hi @DarkKnight0-0 -- thanks again for your submission. Below is my initial review. You may use this issue thread to ask for clarification and/or to update us on progress. Please...

Request for new ontology [Exercise Medicine Ontology]

Due to inactivity for the past two months, this issue will be closed. When ready, you are welcome to re-open the issue, at which point we will be glad to...

Is it possible to get hgvs official name from "15-49716528-A-G"？

Hey @shizipo! I don't think this is possible with out-of-the-box with HGVS. However, the [VRS-Python library](https://github.com/ga4gh/vrs-python) (which is biocommons-adjacent) does include a `translator` module that can ingest gnomAD-style variation descriptions...