{"id":"W7102395616","doi":"10.6084/m9.figshare.30473356","title":"Additional file 1 of Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases","year":2025,"lang":"","type":"article","venue":"Figshare","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Prioritization; Gene; Genetic architecture; Genetic variants; Workflow; Whole genome sequencing; Genome-wide association study; Genome; Genetic variation","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001880345,0.001301735,0.001427063,0.002649438,0.001164992,0.001844205,0.002281351,0.001302756,0.8555518],"category_scores_gemma":[0.02516477,0.0005736317,0.001132757,0.003848446,0.0003273049,0.001781497,0.001433876,0.00111112,0.1624561],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000963149,"about_ca_system_score_gemma":0.001728059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008404958,"about_ca_topic_score_gemma":0.01376479,"domain_scores_codex":[0.9988681,0.0001926162,0.0001827679,0.0003800598,0.0002192579,0.0001572084],"domain_scores_gemma":[0.9808914,0.01447686,0.001156335,0.001389847,0.001462405,0.0006230873],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0003401152,0.00008421083,0.005740966,0.002452127,0.0001066752,0.0001902474,0.0000840931,0.0004580449,0.0002521166,0.0008509764,0.9788586,0.01058181],"study_design_scores_gemma":[0.006842901,0.0004191599,0.09529052,0.005961709,0.0004794193,0.003312338,0.0007596004,0.003918592,0.001761591,0.02145286,0.8594729,0.0003283598],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.0002040645,0.00001863712,0.0002952223,0.00006669005,0.00002117007,0.00004062655,0.9986896,0.0001693689,0.0004945514],"genre_scores_gemma":[0.008327345,0.0001601544,0.00356629,0.000588447,0.0001188143,0.001060862,0.979529,0.0009783978,0.005670752],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.8555518,"threshold_uncertainty_score":0.2060379,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02672489087871067,"score_gpt":0.2894760870792809,"score_spread":0.2627511962005702,"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."}}