{"id":"W4225851457","doi":"10.1038/s41431-022-01093-y","title":"Predictive genetic testing for Motor neuron disease: time for a guideline?","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Motor Neurone Disease Association","keywords":"Motor neuron; Genetic testing; Disease; Guideline; Biology; Neuroscience; Genetics; Medicine; Internal medicine; Pathology","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":[0.02374329,0.001728167,0.00544224,0.003035332,0.001949226,0.005183805,0.006243874,0.0223244,0.01135079],"category_scores_gemma":[0.06817943,0.0009538347,0.004246651,0.001768518,0.003073642,0.008350126,0.002653813,0.02520218,0.00924672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002310362,"about_ca_system_score_gemma":0.009614141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01049366,"about_ca_topic_score_gemma":0.01900635,"domain_scores_codex":[0.9886681,0.004329893,0.003530007,0.0008990801,0.001954897,0.0006180065],"domain_scores_gemma":[0.8997105,0.044454,0.003772216,0.003656164,0.03966531,0.008741775],"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":[0.0003240074,0.0002212828,0.001410644,0.002091524,0.0003307472,0.0009101001,0.0001171043,0.0005962478,0.0007282455,0.00724815,0.8367938,0.1492283],"study_design_scores_gemma":[0.001247068,0.0006589144,0.009560556,0.0477016,0.001863392,0.002919673,0.0009917291,0.002247363,0.0005614572,0.07683779,0.8549049,0.000505558],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.0005719437,0.04948585,0.008344318,0.9033587,0.02769954,0.0001696859,0.0009251012,0.0004340014,0.009010901],"genre_scores_gemma":[0.009461493,0.08866238,0.04515476,0.7815973,0.06010868,0.0008428499,0.003164568,0.0003955353,0.01061252],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.02374329,"threshold_uncertainty_score":0.125568,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05491219795123183,"score_gpt":0.2888348080609229,"score_spread":0.2339226101096911,"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."}}