{"id":"W2086884652","doi":"10.1002/ajmg.10212","title":"Serious genetic disorders: Can or should they be defined?*","year":2002,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Palliative Care and End-of-Life Issues","field":"Medicine","cited_by":105,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"National Human Genome Research Institute; National Institutes of Health","keywords":"Certification; Medical genetics; Genetic counseling; Genetic testing; Family medicine; Medicine; Psychology; Law; Genetics; Political science; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002984653,0.0001995741,0.0007243886,0.0001468682,0.00003429849,0.000009873509,0.0003602988,0.0001201109,0.0009176863],"category_scores_gemma":[0.001100404,0.0001332536,0.0002050018,0.0003131223,0.0005457512,0.00001915393,0.00005814669,0.0005188907,0.000007893876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004961823,"about_ca_system_score_gemma":0.000271763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001592818,"about_ca_topic_score_gemma":0.0002265668,"domain_scores_codex":[0.9971371,0.0001209684,0.0007355153,0.0001611514,0.001513527,0.0003316941],"domain_scores_gemma":[0.9980515,0.0003338619,0.0004593867,0.0002638416,0.0002164979,0.0006749525],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003082961,0.0005441473,0.1036567,0.00009672085,0.0004609942,0.0007693064,0.005283579,0.00007168295,0.0002593486,0.00003113995,0.008940603,0.8795775],"study_design_scores_gemma":[0.01334733,0.03410799,0.07192484,0.004292384,0.002101933,0.005059995,0.02072224,0.004701702,0.002392793,0.000843094,0.8391503,0.001355374],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9582355,0.01293628,0.001269982,0.02585205,0.0003154397,0.0001323632,0.00001252528,0.0000164873,0.001229371],"genre_scores_gemma":[0.9163861,0.06532034,0.01354668,0.003986304,0.0005334673,0.000002274269,0.000002108886,0.0000369085,0.0001857966],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8782222,"threshold_uncertainty_score":0.9999956,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1258153809246122,"score_gpt":0.4025846223658914,"score_spread":0.2767692414412792,"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."}}