populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP

MIT License

5 stars 4 forks source link

Closed MattWellie closed 1 year ago

MattWellie commented 1 year ago

Fixes

results are saved into output files, rather than only printing to the Hail logs
requires fewer defined inputs - works input paths out by using the run folder root location
produces comparison stats for the # of matched and missed Seqr Training Flags

cassimons commented 1 year ago

Is this functionality documented in a README somewhere?

MattWellie commented 1 year ago

@cassimons I've added a straight-up numerical count to the top-line output JSON, and made some changes to the README