Goodfire identifies gene variant linked to hearing loss using EVEE

We identified a gene variant behind hearing loss, a big step for interpretability in medicine.

In April, our interpretability system EVEE scored all 4.2M variants in ClinVar, the NIH's variant database. MEPE c.209_212del scored particularly high, so we built a case and had it successfully reclassified as "likely pathogenic."

~2M variants are still "uncertain," but we believe interpretability can help us understand many more!