{"id":"W4402468338","doi":"10.1101/2024.09.11.24313439","title":"Identification of 16 novel Alzheimer’s disease susceptibility loci using multi-ancestry meta-analyses of clinical Alzheimer’s disease and AD-by-proxy cases from four whole genome sequencing datasets","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Waterloo","funders":"National Institute of General Medical Sciences; Cure Alzheimer's Fund; FAS Division of Science, Harvard University; Harvard University","keywords":"Disease; Identification (biology); Computational biology; Alzheimer's disease; Biology; Genetics; Genome; Medicine; Gene; 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":[0.006703523,0.001631457,0.002702259,0.0031124,0.00103825,0.002558036,0.001359564,0.001261627,0.001768465],"category_scores_gemma":[0.00920559,0.0008985598,0.01034011,0.004661723,0.0004750976,0.0006634106,0.001714939,0.001707358,0.0002534314],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00054363,"about_ca_system_score_gemma":0.0008017306,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009862952,"about_ca_topic_score_gemma":0.01615746,"domain_scores_codex":[0.9947568,0.002058272,0.0006581192,0.001814761,0.000396579,0.0003154954],"domain_scores_gemma":[0.9949627,0.002874992,0.0005952135,0.001046273,0.0002977071,0.0002231436],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.005284722,0.00006167948,0.6584698,0.00199947,0.3095306,0.001126952,0.0003359722,0.002268237,0.004623586,0.0004074007,0.001727069,0.01416451],"study_design_scores_gemma":[0.0009962374,0.0004689504,0.5358993,0.0004955801,0.44366,0.001583171,0.0003577211,0.007957872,0.00183643,0.001656269,0.004997779,0.00009071852],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8967371,0.08012857,0.01061999,0.0007720539,0.0002839114,0.0001225933,0.009430853,0.0003741514,0.001530763],"genre_scores_gemma":[0.9897765,0.003914619,0.002684663,0.0001658479,0.00006981421,0.00009388009,0.002889979,0.00007871823,0.0003258721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009862952,"threshold_uncertainty_score":0.03545207,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.3677093071379353,"score_gpt":0.4508186838314191,"score_spread":0.08310937669348378,"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."}}