{"id":"W1974505763","doi":"10.1038/jhg.2010.162","title":"Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis","year":2010,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université Laval; Hôpital de l'Enfant-Jésus; Université de Montréal","funders":"Canadian Institutes of Health Research","keywords":"Amyotrophic lateral sclerosis; RNA splicing; Genetics; Identification (biology); Mutation; Biology; Computational biology; Medicine; Gene; Disease; Pathology","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":[],"consensus_categories":[],"category_scores_codex":[0.0005923451,0.0001115163,0.0003187779,0.0003704505,0.00005279537,0.0000320288,0.0001517988,0.00009648524,0.0000509428],"category_scores_gemma":[0.00004846464,0.00008387081,0.00007912585,0.0002750767,0.00008947364,0.0001046365,0.0000326677,0.000555474,0.000004567579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006924742,"about_ca_system_score_gemma":0.000115126,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000286438,"about_ca_topic_score_gemma":0.0001027822,"domain_scores_codex":[0.9981863,0.00005411305,0.0007751834,0.0001312553,0.0006169034,0.000236234],"domain_scores_gemma":[0.9986476,0.00002373475,0.0004900289,0.0002302445,0.0004903861,0.0001180598],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001777698,0.0002003081,0.0816911,0.00005649898,0.00003646805,0.00005606555,0.0006113452,0.0001186996,0.9160106,0.00004563551,0.00002243415,0.0009730294],"study_design_scores_gemma":[0.002607022,0.001078174,0.9670992,0.0002490623,0.00006086241,0.0001182128,0.00009610381,0.00104721,0.02736728,0.0001815668,0.00001490615,0.00008034342],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990878,0.0001235742,0.0002137543,0.0002290337,0.00008322132,0.0002081483,0.000003243807,0.000005270688,0.00004600688],"genre_scores_gemma":[0.9984846,0.00009663596,0.001085289,0.00005137088,0.0001772312,0.000003268624,0.000003662857,0.00002477293,0.00007320657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8886434,"threshold_uncertainty_score":0.3420152,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02863672317453645,"score_gpt":0.3073495115410875,"score_spread":0.2787127883665511,"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."}}