GlobalDiagnosis and screening
AI model popEVE ranks harmful gene changes in rare disease diagnosis
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Researchers from Harvard Medical School and the CRG in Barcelona introduced popEVE, an artificial intelligence model that uses evolutionary data, in Nature Genetics. In data from more than 31,000 families, the model largely ranked the known causes correctly and found 123 new candidate genes. A notable feature is that it can also be used without parental data.
What does it mean for patients and families?
This tool may help with re-examining genetic data in families who have not received a diagnosis. The decision is still made by a specialist doctor.
Source
Scientific paper: Proteome-wide model for human disease genetics. Nature Genetics, 2025. DOI: 10.1038/s41588-025-02400-1 · PubMed 41286104
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.