{"id":"W4312086708","doi":"10.1002/alz.068221","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":"Bioinformatics and Genomic Networks","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","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":[0.00877691,0.0005263047,0.0004901619,0.000682091,0.0004174901,0.000906023,0.0004182652,0.0006723778,0.003514296],"category_scores_gemma":[0.01125923,0.0002646864,0.001104101,0.0006979772,0.0007467153,0.0007769823,0.0005803403,0.000645418,0.0001837543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003447191,"about_ca_system_score_gemma":0.0004492726,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001447336,"about_ca_topic_score_gemma":0.001675402,"domain_scores_codex":[0.9962275,0.001881097,0.0003708277,0.00104026,0.0003186656,0.0001616875],"domain_scores_gemma":[0.9924232,0.004120216,0.00251519,0.0005453904,0.0002002239,0.0001958294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01793252,0.0003764603,0.9307472,0.0003970888,0.004068641,0.0003162402,0.0004226942,0.002131707,0.02045856,0.0008857807,0.0007207883,0.02154236],"study_design_scores_gemma":[0.000721573,0.002938272,0.9800352,0.00007550393,0.001832464,0.0007877833,0.0001984352,0.004887889,0.005374996,0.001306589,0.001815227,0.00002599441],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938675,0.0007799514,0.003429903,0.0001424312,0.00001633083,0.0001031275,0.0008550697,0.00003903645,0.0007666926],"genre_scores_gemma":[0.9978603,0.0001145893,0.001348149,0.0000483281,0.00001296254,0.0001008085,0.0002833528,0.000007783628,0.000223888],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00877691,"threshold_uncertainty_score":0.04641724,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01815851041018342,"score_gpt":0.2439518197190037,"score_spread":0.2257933093088202,"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."}}