{"id":"W2999627252","doi":"10.1016/j.ejmg.2020.103841","title":"A review of the legislation of direct-to-consumer genetic testing in EU member states","year":2020,"lang":"en","type":"review","venue":"European Journal of Medical Genetics","topic":"Polyamine Metabolism and Applications","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Concordia University","funders":"Consumers, Health, Agriculture and Food Executive Agency","keywords":"Missense mutation; Intellectual disability; Genetics; Hypotonia; Phenotype; Kyphoscoliosis; Loss function; Medicine; Bioinformatics; Gene; Biology; Scoliosis","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":[0.002518211,0.0008825862,0.001443249,0.003319407,0.0003839376,0.00161818,0.001105026,0.002448433,0.004639525],"category_scores_gemma":[0.003275922,0.0003412225,0.0007904917,0.003827819,0.0007368094,0.001475325,0.001081082,0.001824829,0.001317466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001974877,"about_ca_system_score_gemma":0.004069339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003272211,"about_ca_topic_score_gemma":0.004506476,"domain_scores_codex":[0.9989329,0.0002752581,0.0001762311,0.0001358407,0.0003891313,0.00009062631],"domain_scores_gemma":[0.9982575,0.001149371,0.0002205112,0.00003426195,0.0002655454,0.00007292339],"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":[0.0001105794,0.00008278502,0.0001765718,0.02382783,0.00009264676,0.0002838018,0.0001225669,0.0004187713,0.001141548,0.01695641,0.0805491,0.8762374],"study_design_scores_gemma":[0.00001328907,0.00005297022,0.0009528091,0.01129342,0.0000890236,0.0004726858,0.00006278693,0.00004995291,0.000266281,0.001743827,0.9849873,0.00001558541],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001484317,0.9955961,0.000192855,0.001004264,0.0005079353,0.000009111151,0.00006981696,0.000009849314,0.002461605],"genre_scores_gemma":[0.001079826,0.9956317,0.0004551492,0.001353877,0.0002215952,0.00001492725,0.00009114185,0.000004006739,0.001147772],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004639525,"threshold_uncertainty_score":0.01552081,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04824146819634246,"score_gpt":0.3334249122563174,"score_spread":0.2851834440599749,"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."}}