{"id":"W4386163403","doi":"10.1016/j.gim.2023.100967","title":"Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; McGill University; McGill Genome Centre; Université Laval; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; Fondation Brain Canada","keywords":"Amyotrophic lateral sclerosis; Genetics; Genome; Biology; Genome-wide association study; Medicine; Single-nucleotide polymorphism; Gene; Genotype; Disease; Pathology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.001472465,0.001113225,0.0007884248,0.005430548,0.004914611,0.001376293,0.001391893,0.0009614542,0.006311977],"category_scores_gemma":[0.003011092,0.0003554444,0.001612482,0.006286362,0.000877042,0.00024286,0.001116425,0.0008298852,0.0002795087],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008866614,"about_ca_system_score_gemma":0.009666865,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.957765,"about_ca_topic_score_gemma":0.9614481,"domain_scores_codex":[0.9980159,0.0003689995,0.0001400099,0.0005096201,0.000471398,0.0004940336],"domain_scores_gemma":[0.9981773,0.0004687913,0.0002535523,0.00009916115,0.000661624,0.0003396101],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002345048,0.0001712148,0.8919291,0.0002925532,0.002597449,0.01379184,0.008151076,0.003474444,0.02174441,0.008385812,0.007768174,0.03934885],"study_design_scores_gemma":[0.00008864103,0.00005216626,0.9842982,0.00009390643,0.0006144229,0.002414814,0.001470046,0.001309818,0.0007774926,0.0004102282,0.008407249,0.00006297974],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9837517,0.002303682,0.001341871,0.001094453,0.00005565107,0.00005438265,0.006483256,0.00005466386,0.004860358],"genre_scores_gemma":[0.9942215,0.0007960953,0.001327024,0.0001775016,0.00002401069,0.0000216794,0.001229312,0.00003012954,0.002172615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04223496,"threshold_uncertainty_score":0.08496732,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1215999347540644,"score_gpt":0.3586960053270822,"score_spread":0.2370960705730178,"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."}}