{"id":"W2553880444","doi":"10.1007/s00439-016-1745-8","title":"Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders","year":2016,"lang":"en","type":"article","venue":"Human Genetics","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Medical Research Council; Wellcome Trust; Baillie Gifford","keywords":"Microphthalmia; Biology; Eye development; Zebrafish; Anophthalmia; Genetics; Coloboma; Gene; Transcription factor","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003599919,0.000771538,0.0004186404,0.001977644,0.0007061266,0.0006893543,0.0006357345,0.001077935,0.002464617],"category_scores_gemma":[0.002103055,0.0002794517,0.0005926727,0.001073316,0.0008031012,0.0003293385,0.0006226428,0.0006008696,0.0003394082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003899866,"about_ca_system_score_gemma":0.000296982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005194967,"about_ca_topic_score_gemma":0.002545411,"domain_scores_codex":[0.9994003,0.00007819955,0.00008934708,0.0001555736,0.0001475733,0.0001290189],"domain_scores_gemma":[0.9993636,0.0002990082,0.000173008,0.00002736175,0.00006081137,0.00007632068],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0018016,0.0002641679,0.7917568,0.0001377733,0.0002239887,0.04211785,0.002341945,0.0009618211,0.1384528,0.001325955,0.0009815684,0.01963363],"study_design_scores_gemma":[0.00007614862,0.0003269945,0.9108707,0.00007224776,0.0001866589,0.05835459,0.001590774,0.001153156,0.02336537,0.000515844,0.003449545,0.00003807197],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984811,0.0002715004,0.0002780982,0.0001033486,0.00001043897,0.00000811823,0.0003774988,0.00001015202,0.0004596454],"genre_scores_gemma":[0.9987969,0.0001350131,0.0004386629,0.00005429079,0.00001136688,0.000009665702,0.0002637614,0.00001250339,0.000277903],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005194967,"threshold_uncertainty_score":0.01032943,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006119145330010039,"score_gpt":0.21103759925915,"score_spread":0.20491845392914,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}