{"id":"W2015160508","doi":"10.1097/01.gim.0000139506.11694.7c","title":"Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel","year":2004,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":479,"is_retracted":false,"has_abstract":false,"ca_institutions":"Xenon Pharmaceuticals (Canada)","funders":"","keywords":"Medical genetics; Cystic fibrosis; Medicine; Mutation; Carrier testing; Genetics; Population; Internal medicine; Biology; Prenatal diagnosis; Environmental health; 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":[0.005975598,0.001175254,0.00142886,0.006367051,0.001471246,0.001116176,0.00263965,0.004053204,0.003058013],"category_scores_gemma":[0.02002798,0.0007159823,0.001515165,0.002580592,0.0006939195,0.0005933359,0.001099935,0.002582534,0.001718163],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002881484,"about_ca_system_score_gemma":0.005739711,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07847226,"about_ca_topic_score_gemma":0.1084497,"domain_scores_codex":[0.9960799,0.0008793983,0.0008119286,0.0002865228,0.001563471,0.0003788358],"domain_scores_gemma":[0.9770018,0.003264767,0.001489904,0.0006997548,0.01640577,0.001138047],"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":[0.0007377961,0.0004984766,0.150533,0.0007491783,0.0002490516,0.003825633,0.0007534534,0.001579364,0.0057756,0.001695398,0.7266273,0.1069757],"study_design_scores_gemma":[0.0005494606,0.0003877989,0.5745414,0.00146011,0.0007381993,0.009273798,0.0005113747,0.003523944,0.006729443,0.001624306,0.4005109,0.0001492314],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.3283655,0.04060472,0.068807,0.2252624,0.03116052,0.01105697,0.1273911,0.003854081,0.1634978],"genre_scores_gemma":[0.5118434,0.0297807,0.1577392,0.06909563,0.008124476,0.01052754,0.118282,0.0007681499,0.09383895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07847226,"threshold_uncertainty_score":0.156031,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03487385100144773,"score_gpt":0.3618580589230443,"score_spread":0.3269842079215966,"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."}}