{"id":"W2065967317","doi":"10.1111/j.1399-0004.2011.01692.x","title":"‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing","year":2011,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Exome sequencing; Exome; Genetics; Dysplasia; Biology; Mutation; DNA sequencing; Computational biology; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003683902,0.0003809567,0.000524942,0.00004713219,0.00007392852,0.00003637544,0.0009731384,0.001130094,0.00004591424],"category_scores_gemma":[0.0002396337,0.0002808829,0.0005850499,0.00007945661,0.0003209863,0.000001251653,0.0005428466,0.0006980093,0.00006149631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001574603,"about_ca_system_score_gemma":0.0003828749,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000127023,"about_ca_topic_score_gemma":0.00001508253,"domain_scores_codex":[0.9974616,0.0002182677,0.0009199678,0.0007096826,0.0002417478,0.0004487415],"domain_scores_gemma":[0.9978921,0.0001211246,0.0003691737,0.001267178,0.0001907847,0.000159608],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007818354,0.0001185833,0.002451134,0.0002511817,0.0005931168,0.0002004069,0.0001619993,0.00004888004,0.010721,0.00001197756,0.981317,0.004046531],"study_design_scores_gemma":[0.0003169724,0.001059223,0.002071534,0.0000778527,0.0002792248,0.00005263409,0.00007723247,0.00001108578,0.005597745,0.0001695192,0.9897341,0.0005529104],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9660107,0.005257018,0.0006184056,0.02024619,0.003559692,0.001082015,0.0005904015,0.0000255308,0.002610056],"genre_scores_gemma":[0.5616414,0.002342443,0.002295396,0.415358,0.01217284,0.00008454022,0.0008959739,0.0002370878,0.004972323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4043693,"threshold_uncertainty_score":0.9999644,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06022679207443216,"score_gpt":0.3121238592114151,"score_spread":0.2518970671369829,"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."}}