{"id":"W4386592991","doi":"10.1002/acn3.51895","title":"Evidence‐based consensus guidelines for <scp>ALS</scp> genetic testing and counseling","year":2023,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Royal University","funders":"ALS Association","keywords":"Genetic testing; Medicine; Genetic counseling; Guideline; TARDBP; Grading (engineering); MEDLINE; C9orf72; Delphi method; Amyotrophic lateral sclerosis; Family medicine; Disease; Pathology; SOD1; Genetics; Computer science; Dementia","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":[0.06900483,0.002307602,0.004503805,0.01645383,0.00224745,0.006341238,0.009044483,0.01021242,0.01130055],"category_scores_gemma":[0.1893515,0.001545424,0.01180711,0.01082734,0.001955514,0.004822375,0.005356249,0.00821803,0.004667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01017892,"about_ca_system_score_gemma":0.04831279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01733504,"about_ca_topic_score_gemma":0.02490193,"domain_scores_codex":[0.9149272,0.03774075,0.02837425,0.002742316,0.01468616,0.001529266],"domain_scores_gemma":[0.8440138,0.06276096,0.02052608,0.003617383,0.06569979,0.003381979],"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":[0.000245064,0.0002038624,0.001783585,0.2578688,0.002640384,0.0006387979,0.002807786,0.002225708,0.0008525689,0.01522877,0.3825051,0.3329996],"study_design_scores_gemma":[0.0006882005,0.0001359515,0.002798731,0.5667739,0.00466851,0.0005903897,0.001084639,0.001249818,0.0005012388,0.01900589,0.4023134,0.0001893864],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"methods","genre_scores_codex":[0.003464343,0.5996788,0.05815464,0.2190654,0.02019225,0.03231528,0.0171805,0.001190399,0.04875835],"genre_scores_gemma":[0.0415417,0.4694432,0.3454204,0.05346033,0.004140993,0.04988908,0.02454196,0.0003641522,0.01119814],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.06900483,"threshold_uncertainty_score":0.3649368,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.6815249382642329,"score_gpt":0.5296343746635163,"score_spread":0.1518905636007166,"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."}}