Susanna Repo

Publications (4)

• Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic variant interpretation methods.
• Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
• Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
• A large-scale evaluation of computational protein function prediction