{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002654914,0.0003657396,0.0006177331,0.00009977952,0.00009125385,0.00008444658,0.0003140555,0.0003021507,0.0003154088],"category_scores_gemma":[0.000558036,0.0003522374,0.00009832301,0.0005976842,0.0002437829,0.00005963499,0.0007164219,0.0008309502,0.0004151432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000693231,"about_ca_system_score_gemma":0.0002722328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001383687,"about_ca_topic_score_gemma":0.00001927134,"domain_scores_codex":[0.996533,0.0003951863,0.0006524326,0.0008398068,0.0007821466,0.0007974615],"domain_scores_gemma":[0.9981824,0.0001468474,0.00009934042,0.0004990803,0.0001272002,0.0009451713],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001645247,0.001258079,0.495095,0.001686849,0.0006269232,0.008062931,0.007310423,0.0005538134,0.418996,0.0004109643,0.007784775,0.05656909],"study_design_scores_gemma":[0.004953003,0.001909796,0.9066736,0.0002870033,0.000406435,0.00008208033,0.00008461315,0.02913407,0.01797036,0.0002064074,0.03759688,0.000695739],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9692353,0.01339038,0.00005636137,0.01594721,0.0003455894,0.0007835588,0.00005302041,0.0000465744,0.000141998],"genre_scores_gemma":[0.9688904,0.02257793,0.0004254343,0.007094664,0.0008372435,0.00001403931,0.00001526874,0.00007958609,0.00006543526],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4115787,"threshold_uncertainty_score":0.999893,"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."}}