{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001396583,0.0001061084,0.000416103,0.00009107967,0.00007258717,0.000008802332,0.00005483155,0.0001577941,0.000008159135],"category_scores_gemma":[0.01371507,0.00008462118,0.0001052169,0.0001883143,0.0004289512,0.00002987281,0.00001775422,0.0001976933,0.000004010166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":1.411249e-7,"about_ca_system_score_gemma":0.0001449745,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002063503,"about_ca_topic_score_gemma":0.000004406545,"domain_scores_codex":[0.9981407,0.0001457966,0.0008554264,0.0003370438,0.0002597198,0.0002613331],"domain_scores_gemma":[0.9809439,0.01775406,0.0001179448,0.0001060584,0.0009052144,0.0001728206],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00086213,0.00008758708,0.941619,0.0002969935,0.00009299507,0.00004930433,0.00003240864,0.001321746,0.002703349,0.0001999199,0.003931555,0.04880304],"study_design_scores_gemma":[0.001350774,0.0009964536,0.9064811,0.0001091259,0.00003667966,0.00002315362,0.000002365392,0.08394808,0.00007387883,0.004867332,0.002078929,0.00003207253],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9147481,0.001336089,0.0002323425,0.08320731,0.00006766512,0.0003173196,0.00002832244,0.00003332883,0.00002946099],"genre_scores_gemma":[0.9843297,0.002007871,0.004711765,0.008559016,0.0002960302,0.00001858496,0.00001124354,0.00001547429,0.00005031678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08262633,"threshold_uncertainty_score":0.9945928,"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."}}