{"id":"W4393044051","doi":"10.1002/alz.13705","title":"Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data","year":2024,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute on Aging; University of Pennsylvania","keywords":"Genome-wide association study; Whole genome sequencing; Biology; Genetics; Genetic association; Genome; Gene; 1000 Genomes Project; Computational biology; DNA sequencing; Genotype; Single-nucleotide polymorphism","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":[0.002776838,0.0008532294,0.000820643,0.003445262,0.0006200218,0.001005356,0.0008429692,0.0006250738,0.01178804],"category_scores_gemma":[0.004831776,0.0004099182,0.00063954,0.006001738,0.0002325283,0.0004004184,0.001161332,0.0009170042,0.005793659],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004152882,"about_ca_system_score_gemma":0.001538722,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006953374,"about_ca_topic_score_gemma":0.007834196,"domain_scores_codex":[0.9983546,0.0003984577,0.0002235759,0.000539055,0.000397868,0.00008638784],"domain_scores_gemma":[0.9980302,0.000440509,0.0004633892,0.000398218,0.0004005628,0.0002669668],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005181781,0.0004617099,0.3347335,0.003986184,0.004092339,0.00223035,0.001317017,0.008599133,0.09015954,0.01050937,0.2382297,0.3004994],"study_design_scores_gemma":[0.001273454,0.0006155906,0.5078667,0.0007827174,0.001636969,0.00244024,0.0003852668,0.01078755,0.01622706,0.01849853,0.4393083,0.0001776011],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.14638,0.002042038,0.05156077,0.0009863066,0.0002524226,0.0006052532,0.7818152,0.002190756,0.0141673],"genre_scores_gemma":[0.1453626,0.001332564,0.05072372,0.0005751966,0.0001672066,0.001234241,0.7949198,0.0005440617,0.005140504],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01178804,"threshold_uncertainty_score":0.03943491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07028025820437986,"score_gpt":0.3192863653197426,"score_spread":0.2490061071153628,"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."}}