{"id":"W2135607950","doi":"10.1126/science.1166066","title":"Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis","year":2009,"lang":"en","type":"article","venue":"Science","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":2557,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"","keywords":"Amyotrophic lateral sclerosis; Biology; Gene; Mutant; Cytoplasm; Genetics; Mutation; RNA; Gene mutation; Molecular biology; Pathology; Medicine; Disease","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":[],"consensus_categories":[],"category_scores_codex":[0.000149707,0.0006566103,0.000268803,0.0004424472,0.0002752605,0.0001699554,0.0001694877,0.0003072866,0.00123645],"category_scores_gemma":[0.0002998504,0.0001311144,0.0001654512,0.000311907,0.0004684517,0.0001547876,0.0003975506,0.0001902411,0.0007020489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002081396,"about_ca_system_score_gemma":0.00009879493,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003081403,"about_ca_topic_score_gemma":0.0006638704,"domain_scores_codex":[0.9999126,0.00001038888,0.00001145187,0.0000184277,0.00003093336,0.00001606549],"domain_scores_gemma":[0.9998443,0.0000181939,0.00009813633,0.000005896119,0.000009242757,0.00002422768],"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":[0.001140028,0.0001208268,0.1424634,0.00036772,0.0003121128,0.05177791,0.0006679025,0.0008852424,0.7140824,0.001095541,0.003133349,0.0839536],"study_design_scores_gemma":[0.0002975195,0.001219677,0.3372732,0.0002640792,0.000491123,0.3162491,0.0006165848,0.001500947,0.2767304,0.002861619,0.06240876,0.0000870006],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952218,0.001375332,0.001072446,0.00009364519,0.00002176733,0.00001582917,0.0002191074,0.00008708619,0.001893185],"genre_scores_gemma":[0.9958287,0.001126964,0.001186559,0.00006036084,0.00002042217,0.00001115553,0.0003381736,0.00001328347,0.001414343],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00123645,"threshold_uncertainty_score":0.004136324,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05506677663219511,"score_gpt":0.3213194549091564,"score_spread":0.2662526782769613,"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."}}