{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001847934,0.0007797906,0.001260164,0.0005594046,0.001455416,0.001454976,0.0008109551,0.01487227,0.002204425],"category_scores_gemma":[0.0155592,0.0003846737,0.0007784535,0.0003807075,0.002143181,0.002991402,0.0009756172,0.01560474,0.001878888],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009899867,"about_ca_system_score_gemma":0.0005836692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001084521,"about_ca_topic_score_gemma":0.001341244,"domain_scores_codex":[0.9988616,0.0003578488,0.0001724535,0.0002301182,0.0002493972,0.0001287711],"domain_scores_gemma":[0.9942966,0.00392131,0.0002393129,0.0003082307,0.0006710109,0.0005635426],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.0003791729,0.00007055874,0.00518091,0.0002135916,0.0001022245,0.09084211,0.0006238976,0.0003246819,0.003368358,0.006963902,0.8299975,0.06193309],"study_design_scores_gemma":[0.000299685,0.000399745,0.008832774,0.000752151,0.0001626229,0.2736704,0.001322077,0.003115604,0.002555764,0.07544874,0.6332168,0.0002237563],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.00534784,0.00490709,0.001256217,0.9689059,0.01661423,0.00001281717,0.0001100063,0.0001342057,0.002711627],"genre_scores_gemma":[0.07364816,0.006867302,0.002811909,0.8279312,0.07865413,0.00003802692,0.00009615211,0.0001069871,0.009846145],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01487227,"threshold_uncertainty_score":0.009772956,"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."}}