{"id":"W4379966736","doi":"10.1111/acel.13871","title":"Location of pathogenic variants in <i>PSEN1</i> impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal‐dominant Alzheimer's disease","year":2023,"lang":"en","type":"article","venue":"Aging Cell","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centres Intégré Universitaires de Santé et de Services Sociaux; Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal","funders":"National Institute on Aging; National Institutes of Health; Alzheimer's Association","keywords":"PSEN1; Biomarker; Alzheimer's disease; Disease; Biology; Presenilin; Dementia; Cognitive decline; Oncology; Genetics; Bioinformatics; Neuroscience; Medicine; Internal medicine","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":[0.000848977,0.0004964238,0.0004018092,0.0005352094,0.0004719736,0.000661707,0.0003484546,0.0005394652,0.001254505],"category_scores_gemma":[0.002096713,0.0001846734,0.0004782006,0.0005228736,0.0003511201,0.0003622416,0.0003807776,0.0004612861,0.0001470475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003019653,"about_ca_system_score_gemma":0.0003319881,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006741515,"about_ca_topic_score_gemma":0.005420382,"domain_scores_codex":[0.9994924,0.0001637252,0.00005136772,0.0001756494,0.00006519755,0.0000516259],"domain_scores_gemma":[0.9989385,0.00026063,0.00052158,0.00008249486,0.00006624174,0.0001305888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004248456,0.0003157612,0.970513,0.00003892095,0.0004069201,0.0008599575,0.0003410312,0.0003980681,0.01564782,0.0001209194,0.0002465034,0.006862567],"study_design_scores_gemma":[0.00001691252,0.0004461589,0.9974559,0.000009549496,0.0001282258,0.0005238695,0.0001266773,0.0004550756,0.0005727682,0.0001005951,0.0001570589,0.000007179236],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995926,0.00007119423,0.00007037513,0.00002265516,0.00000269016,0.000003623377,0.00009022946,0.000002991375,0.0001436255],"genre_scores_gemma":[0.9995903,0.00003702775,0.000119335,0.00001723012,0.00000416617,0.000004005955,0.0000911374,0.00000353581,0.0001331927],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006741515,"threshold_uncertainty_score":0.01340455,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05049285564303341,"score_gpt":0.3701215745532009,"score_spread":0.3196287189101675,"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."}}