MARRVELAI - Should we have it?

[fulyataylan]

Hello developers,

MARRVEL has released a new tool called MARRVELAI. This tool integrates phenotype data to prioritize variants, a feature currently missing in Scout's variant ranking. MARRVELAI can also extract phenotype terms from journal text, which could be useful for extracting HPO terms from extensive clinical descriptions. You can find more information at https://ai.marrvel.org/.

It may be worthwhile to explore if this tool can be beneficial to us and whether it can be integrated with the Scout and Tip2Toe phenotyping tools.

Thanks,
Fulya

[jemten]

Hi @fulyataylan,
Interesting tool! I find very little information on their website. Do you know if the re is a publication or a whitepaper somewhere? Also from what I can discern this would rather be implemented in Scout than in the pipeline, or am I missing something.

[jemten]

conversation continues here nf-core#560