{"id":"W1151405824","doi":"10.1038/mp.2015.121","title":"SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease","year":2015,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":134,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre","funders":"Agence Nationale de la Recherche; EU Joint Programme – Neurodegenerative Disease Research","keywords":"Alzheimer's disease; Disease; Degenerative disease; Early-onset Alzheimer's disease; Risk factor; Age of onset; Medicine; Dementia; Neuroscience; Psychology; Pathology","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":[0.0004553235,0.001246696,0.0007085598,0.001670734,0.0006287699,0.0008801433,0.0007225037,0.001197995,0.004763923],"category_scores_gemma":[0.001984024,0.0003411768,0.0005736508,0.001085864,0.0005048734,0.0003671976,0.0005184371,0.0009182732,0.0009061197],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003001822,"about_ca_system_score_gemma":0.0002768293,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009249132,"about_ca_topic_score_gemma":0.0009749081,"domain_scores_codex":[0.9994888,0.0001009742,0.00007244619,0.0001537574,0.0001263526,0.00005768895],"domain_scores_gemma":[0.9985273,0.0004489553,0.0006268316,0.00007361174,0.0001130528,0.000210241],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007505731,0.0004982043,0.6137731,0.0006224663,0.001577158,0.160503,0.001223238,0.001500328,0.1325593,0.004564089,0.01000117,0.06567226],"study_design_scores_gemma":[0.0004869805,0.000675846,0.6960119,0.0003020553,0.001696906,0.2537422,0.0009562349,0.003966098,0.02098857,0.006547199,0.01447778,0.0001483441],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884571,0.003611991,0.001890236,0.001075196,0.0001573899,0.00002063042,0.001280924,0.0001593875,0.003347101],"genre_scores_gemma":[0.9964207,0.0004452774,0.001318278,0.0001561541,0.0001693154,0.000007179162,0.0005238498,0.0000388013,0.0009205199],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004763923,"threshold_uncertainty_score":0.01593691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0134715951314359,"score_gpt":0.2550633623603771,"score_spread":0.2415917672289412,"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."}}