{"id":"W2064808249","doi":"10.1002/humu.22049","title":"Diagnostic interpretation of array data using public databases and internet sources","year":2012,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":108,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Human Genome Research Institute; Wellcome Trust","keywords":"The Internet; Biology; Interpretation (philosophy); Copy-number variation; Computer science; Data science; Database; Data mining; Information retrieval; Genome; World Wide Web; Genetics; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000140593,0.00005748555,0.00005749959,0.00003489177,0.00004451178,0.00002102069,0.00008514251,0.00002480335,0.00002869754],"category_scores_gemma":[0.0001350115,0.00005728738,0.00001109951,0.00002447869,0.00004629204,0.00003654397,0.00009323526,0.00002097509,0.000001492084],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000552704,"about_ca_system_score_gemma":0.00001470792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008073884,"about_ca_topic_score_gemma":0.00004928408,"domain_scores_codex":[0.9995627,0.00004179577,0.0001404483,0.0001167029,0.00004847352,0.00008983626],"domain_scores_gemma":[0.9996276,0.00002315187,0.00009425766,0.0001892179,0.00003593777,0.00002985162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003319139,0.0002040036,0.3593466,0.0001843314,0.0001566975,7.812057e-7,0.004387281,0.0001637562,0.6247046,0.005804873,0.0004184544,0.004595472],"study_design_scores_gemma":[0.001688682,0.0005096651,0.4151528,0.0002085872,0.0003683342,0.0001937952,0.008051041,0.007576424,0.5538748,0.00068656,0.01076751,0.0009217693],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9725396,0.0005792611,0.02655129,0.00001145899,0.00005577957,0.00006116491,0.00006049716,0.000004148708,0.0001367941],"genre_scores_gemma":[0.9965156,0.0000147821,0.00141469,0.00002179216,0.0001214021,0.000003572374,0.00185263,0.000007098905,0.00004837945],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07082979,"threshold_uncertainty_score":0.2336112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.062942207480325,"score_gpt":0.3002548398455919,"score_spread":0.2373126323652669,"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."}}