{"id":"W2787679353","doi":"10.2196/jopm.8958","title":"Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions","year":2018,"lang":"en","type":"article","venue":"Journal of Participatory Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute","keywords":"Exome sequencing; Exome; Psychology; Medicine; Developmental psychology; Genetics; Mutation; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001414554,0.0001425249,0.000371947,0.0002365268,0.00008041574,0.000006582389,0.0002743213,0.00007092878,0.0001022893],"category_scores_gemma":[0.0003391856,0.00008713336,0.00003361039,0.0002758402,0.001151125,0.00001028167,0.00004700934,0.0001877905,0.000001785739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001505914,"about_ca_system_score_gemma":0.0005259702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001020192,"about_ca_topic_score_gemma":0.001641353,"domain_scores_codex":[0.9977227,0.0003691066,0.0006101073,0.0002157089,0.0007370485,0.0003452946],"domain_scores_gemma":[0.998464,0.0000420425,0.0002155587,0.000320083,0.0005380775,0.0004202796],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001851412,0.001599396,0.9662914,0.00002244341,0.0004023559,0.0003527632,0.004224143,0.0002780309,0.02407572,0.00003149821,0.0006969288,0.0001738731],"study_design_scores_gemma":[0.005162604,0.02771277,0.9470721,0.0002239068,0.0002255059,0.0002834141,0.0146784,0.00008523381,0.004205707,0.0000348599,0.0001519954,0.0001634882],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989975,0.0004341084,0.00003478487,0.0001792324,0.00006052864,0.0002401909,0.000006995489,0.000002686158,0.00004398795],"genre_scores_gemma":[0.9991921,0.00007425854,0.00008194956,0.000101385,0.000484936,0.00001980172,0.00001113525,0.00002035049,0.0000140764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02611337,"threshold_uncertainty_score":0.4241368,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1355583084243424,"score_gpt":0.4337615642343681,"score_spread":0.2982032558100258,"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."}}