Goodfire says its EVEE tool helped reclassify a hearing-loss gene variant

Goodfire says its interpretability system EVEE scored all 4.2 million variants in the NIH's ClinVar database in April.

The MEPE c.209_212del variant scored particularly high, and Goodfire says it built a case that got the variant reclassified as "likely pathogenic." The variant is linked to hearing loss in Goodfire's post.

Goodfire says about 2 million ClinVar variants remain classified as "uncertain" and that interpretability can help resolve many of them. Goodfire also released a write-up describing how it built EVEE, which it names as a method for explaining genetic variants.