{"id":"W3026449832","doi":"10.1186/s12881-020-01046-6","title":"Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer’s disease endophenotypes","year":2020,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Genentech; IXICO; H. Lundbeck A/S; Servier; Eisai; Northern California Institute for Research and Education; Pfizer; Biogen; BioClinica; F. Hoffmann-La Roche; University of Southern California; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; Foundation for the National Institutes of Health; Alzheimer's Disease Neuroimaging Initiative; Meso Scale Diagnostics; National Institute on Aging; Alzheimer's Association; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; National Science Foundation","keywords":"Scan statistic; Computational biology; Phenotype; Endophenotype; Biology; Genome-wide association study; Genetic association; Genotyping; Human genetics; Genetics; Alzheimer's Disease Neuroimaging Initiative; Statistic; Disease; Single-nucleotide polymorphism; Alzheimer's disease; Genotype; Gene; Medicine; Neuroscience; Pathology; Statistics","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003791488,0.0002477498,0.0003508073,0.00002825809,0.0001655424,0.00002499219,0.0003341927,0.0002218504,0.0002508303],"category_scores_gemma":[0.004227394,0.0002136088,0.00009361831,0.0001916617,0.0001835102,0.000003139323,0.0001441592,0.0001973785,0.00007143636],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000219289,"about_ca_system_score_gemma":0.001052403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002939235,"about_ca_topic_score_gemma":0.0001933582,"domain_scores_codex":[0.9976264,0.0004408773,0.0004667231,0.0005519961,0.0004732123,0.0004408462],"domain_scores_gemma":[0.9980698,0.0003433189,0.0002464916,0.0003313354,0.0002198043,0.000789231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001852915,0.0008805642,0.84964,0.0002977978,0.002400934,0.0002248044,0.001353301,0.01375146,0.01077385,0.01886037,0.08752054,0.01244346],"study_design_scores_gemma":[0.003195249,0.002594524,0.9526684,0.00008114493,0.0009779873,0.00001781013,0.0005404623,0.02049628,0.0005402369,0.002368167,0.01528381,0.001235915],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6236009,0.01059096,0.3532423,0.007844195,0.0004286569,0.001045552,0.001244231,0.00009493653,0.001908301],"genre_scores_gemma":[0.9431105,0.0004848472,0.05194819,0.00299759,0.0004548344,0.00005116348,0.0007645329,0.00004579922,0.0001425945],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3195096,"threshold_uncertainty_score":0.8710715,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04930623512160399,"score_gpt":0.3094592548553996,"score_spread":0.2601530197337956,"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."}}