{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005033975,0.0001461995,0.0003584433,0.0002661063,0.00003100442,0.000007779458,0.00005312654,0.00005324995,0.000004654395],"category_scores_gemma":[0.0003554524,0.0001178169,0.00005999881,0.0007185814,0.0002125421,0.00009806557,0.00007261396,0.0001461301,0.000009557051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001484807,"about_ca_system_score_gemma":0.0004714949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009568411,"about_ca_topic_score_gemma":0.00002635295,"domain_scores_codex":[0.9982701,0.0002877382,0.0004639382,0.0003399667,0.0003460599,0.0002922298],"domain_scores_gemma":[0.9989147,0.0002544063,0.000151018,0.0001939377,0.000185002,0.000300989],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001169781,0.00149186,0.9837659,0.0002985389,0.0004001819,0.0006911846,0.0004154382,0.00001693829,0.004108869,0.000008377884,0.00004200146,0.007590911],"study_design_scores_gemma":[0.004701668,0.0003898814,0.9749512,0.001597848,0.0004076202,0.000002844261,0.0001531011,0.001901749,0.01572751,0.00007056814,0.00000151504,0.00009450401],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.98273,0.01614566,0.000006871284,0.0001747057,0.00003762052,0.0007737776,0.00003087908,0.00001818114,0.00008235387],"genre_scores_gemma":[0.9982446,0.001506734,0.00005683065,0.00003321658,0.00002159911,0.0000397478,0.00006974678,0.00002112793,0.000006377369],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01551466,"threshold_uncertainty_score":0.4804433,"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."}}