{"id":"W3023950431","doi":"10.1007/s10048-020-00612-7","title":"Oligogenicity, C9orf72 expansion, and variant severity in ALS","year":2020,"lang":"de","type":"article","venue":"Neurogenetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; ALS Society of Canada","keywords":"C9orf72; Amyotrophic lateral sclerosis; Human genetics; Genetics; Biology; Pathogenesis; Gene; Disease; Trinucleotide repeat expansion; Medicine; Allele; Pathology; Immunology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000630524,0.0005009106,0.0003886209,0.001666957,0.0006477177,0.0006968048,0.0004607264,0.0007654498,0.003550828],"category_scores_gemma":[0.002051046,0.0002137498,0.0003576265,0.001265112,0.000496057,0.0004702994,0.0006021702,0.0004778996,0.0004691493],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002296783,"about_ca_system_score_gemma":0.0002514278,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002269976,"about_ca_topic_score_gemma":0.002115475,"domain_scores_codex":[0.9995939,0.0001064565,0.00007383472,0.0001049545,0.00006858853,0.00005215915],"domain_scores_gemma":[0.99864,0.0002840763,0.0005375595,0.00008212127,0.0001114845,0.0003447609],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002171872,0.0001228824,0.9799574,0.00002652583,0.0001656651,0.002376847,0.0002414851,0.0002840623,0.009000169,0.0002905063,0.0002324746,0.005130106],"study_design_scores_gemma":[0.00001467119,0.0001738868,0.9962227,0.00001046537,0.00005937528,0.002095446,0.000163717,0.0003913383,0.0003018421,0.0003475819,0.0002064599,0.00001249514],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991688,0.000122705,0.00009134716,0.00003315934,0.000006590482,0.000002206575,0.0001298839,0.000004062455,0.0004414744],"genre_scores_gemma":[0.9992864,0.00005913341,0.0000964608,0.00001548518,0.00001518615,0.000002546056,0.0001621711,0.000004611509,0.0003582054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003550828,"threshold_uncertainty_score":0.01187873,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04807443479861528,"score_gpt":0.290757996990211,"score_spread":0.2426835621915958,"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."}}