{"id":"W3082876695","doi":"10.1038/s41436-020-00950-9","title":"DOORS syndrome and a recurrent truncating ATP6V1B2 variant","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Doors; Medicine; Genetics; Biology; Computer science","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001287589,0.0001219176,0.0001683663,0.00002973523,0.00003335177,0.000007280104,0.0001240791,0.00006788835,0.00002560058],"category_scores_gemma":[0.0001570379,0.0001043256,0.00002338948,0.00008943791,0.00008731633,7.683822e-7,0.0001198283,0.00007835231,0.000003270871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006108471,"about_ca_system_score_gemma":0.00004014374,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001183471,"about_ca_topic_score_gemma":0.00001603945,"domain_scores_codex":[0.9991513,0.00003218533,0.0002217706,0.0003169382,0.0001009717,0.0001768319],"domain_scores_gemma":[0.999573,0.00001052113,0.00005149148,0.0001659518,0.00002789927,0.0001711342],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008134641,0.0004453908,0.1186538,0.001025049,0.0003622463,0.002164493,0.007503715,0.00118267,0.7266008,0.001149943,0.01761035,0.1224881],"study_design_scores_gemma":[0.02198773,0.01905198,0.5400987,0.001211502,0.0006505687,0.003154177,0.01083246,0.02098562,0.02728387,0.004313972,0.3464542,0.00397518],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9866323,0.01067287,0.0002794113,0.001591904,0.00014572,0.0001467647,0.00001143188,0.00000634261,0.0005132697],"genre_scores_gemma":[0.9955543,0.002093066,0.0009620287,0.001021373,0.000258216,0.000009095952,0.00005891593,0.00001642935,0.00002661031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6993169,"threshold_uncertainty_score":0.4254275,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01814408430881237,"score_gpt":0.2612139920074235,"score_spread":0.2430699076986111,"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."}}