{"id":"W4312087054","doi":"10.1002/alz.067186","title":"AD‐causing variants that affect <i>PSEN1</i> transmembrane domains are associated with faster neurodegeneration and cognitive decline compared to those affecting cytoplasmic domains","year":2022,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"PSEN1; Clinical Dementia Rating; Dementia; Biomarker; Cognitive decline; Oncology; Cognition; Alzheimer's disease; Internal medicine; Disease; Psychology; Medicine; Presenilin; Neuroscience; Biology; Genetics","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":[0.00675811,0.0005107535,0.0005858054,0.0005974057,0.0004059941,0.0009011509,0.0003625116,0.0006405551,0.00358861],"category_scores_gemma":[0.009987421,0.0002566626,0.001102234,0.0006249279,0.0007231992,0.000727877,0.0005195264,0.0006666629,0.0001899169],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003528355,"about_ca_system_score_gemma":0.0004445678,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001756105,"about_ca_topic_score_gemma":0.001789099,"domain_scores_codex":[0.9966151,0.001584202,0.0003610559,0.0009774333,0.0003016159,0.000160595],"domain_scores_gemma":[0.993162,0.003643231,0.002197572,0.0005800019,0.0002275505,0.000189703],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02510904,0.0004804249,0.9073577,0.0004500555,0.00469122,0.0004008842,0.0004910862,0.002944846,0.02983155,0.001096289,0.000851785,0.02629506],"study_design_scores_gemma":[0.0009052894,0.003323649,0.9775141,0.00008026131,0.001840617,0.0008036966,0.0002090251,0.005399637,0.006664506,0.001365219,0.001865305,0.00002870974],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947188,0.0007093624,0.002835998,0.0001500627,0.00001726013,0.00008141871,0.0006745675,0.00003562715,0.0007768342],"genre_scores_gemma":[0.9984018,0.0001075611,0.0008969292,0.0000488713,0.00001396808,0.00007405148,0.0002095962,0.000007489355,0.0002397861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00675811,"threshold_uncertainty_score":0.03574073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03982357039067001,"score_gpt":0.3016807351729571,"score_spread":0.261857164782287,"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."}}