Rare Disease Diagnosis on MyGene
75.86R@1DeepRare
Evaluation Results
| Method | Links | |||
|---|---|---|---|---|
| DeepRarebackbone=GPT-4o2025.06 | 75.86 | 80 | 80.69 | |
| DeepRarebackbone=DeepSeek-R12025.06 | 75 | 80.55 | 81.94 | |
| DeepRarebackbone=Claude-3.72025.06 | 73.79 | 80.68 | 80.69 | |
| DeepRarebackbone=DeepSeek-V32025.06 | 72.6 | 76.03 | 76.03 | |
| DeepRarebackbone=Gemini-22025.06 | 69.18 | 77.4 | 79.45 | |
| PhenoBrain2025.06 | 45.21 | 58.9 | 61.64 | |
| Gemini 2 think2025.06 | 39.72 | 53.42 | 53.42 | |
| DeepSeek R12025.06 | 35.62 | 46.58 | 47.95 | |
| o3mini2025.06 | 34.48 | 46.21 | 49.66 | |
| Claude 3.7 think2025.06 | 34.25 | 37.67 | 39.72 | |
| RAGbackbone=DeepSeek-V32025.06 | 30.14 | 42.47 | 48.63 | |
| Gemini 22025.06 | 28.77 | 48.63 | 54.79 | |
| DeepSeek V32025.06 | 20.83 | 39.58 | 47.22 | |
| PubCaseFinder2025.06 | 20.55 | 26.71 | 28.08 | |
| Claude-3.7-Sonnet2025.06 | 19.44 | 36.11 | 39.58 | |
| GPT-4o2025.06 | 19.31 | 35.17 | 37.93 | |
| MDAgentsbackbone=GPT-4o2025.06 | 15.75 | — | 24.66 | |
| DS-R1-search2025.06 | 15.75 | 34.93 | 46.57 | |
| MMedS-Llama 32025.06 | 15.07 | 23.97 | 28.09 | |
| MDAgentsbackbone=DeepSeek-V32025.06 | 8.21 | 11.64 | 15.75 | |
| Baichuan-14B2025.06 | 6.16 | 23.91 | 30.82 |