{"id":"W4405700538","doi":"10.1002/alz.14444","title":"Integrating rare pathogenic variant prioritization with gene‐based association analysis to identify novel genes and relevant multimodal traits for Alzheimer's disease","year":2024,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute on Aging; National Key Research and Development Program of China; Natural Science Foundation of Shanghai; Canadian Institutes of Health Research; National Institutes of Health; Arizona Biomedical Research Commission; Science and Technology Commission of Shanghai Municipality; National Natural Science Foundation of China; National Institute on Drug Abuse; National Key Laboratory of Human Factors Engineering; National Institute of Neurological Disorders and Stroke; Northern California Institute for Research and Education; Arizona Department of Health Services","keywords":"Endophenotype; Candidate gene; Biology; Disease; Genome-wide association study; Gene; Genetic association; Genetics; Computational biology; Bioinformatics; Medicine; Neuroscience; Genotype; Cognition; Single-nucleotide polymorphism; Pathology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00303959,0.000894132,0.0009978423,0.003305151,0.000524885,0.001145842,0.0007729218,0.0004399658,0.002520334],"category_scores_gemma":[0.004175874,0.0002045882,0.001325056,0.001957301,0.0003958406,0.000338374,0.0008719728,0.0004985549,0.0004316973],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004050634,"about_ca_system_score_gemma":0.001296944,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004474791,"about_ca_topic_score_gemma":0.0077093,"domain_scores_codex":[0.9989367,0.000328174,0.00008010209,0.0004048125,0.0001591581,0.00009091934],"domain_scores_gemma":[0.9981452,0.001048896,0.0002989209,0.0001633442,0.0001906881,0.0001529057],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002034486,0.0003582293,0.6986877,0.0006319814,0.003603462,0.002036128,0.0003232597,0.01553593,0.06055253,0.002514475,0.003239051,0.2104828],"study_design_scores_gemma":[0.0006005636,0.0008737632,0.7217745,0.0001928587,0.006273091,0.003011212,0.0003923304,0.2149259,0.02072018,0.01951373,0.0115322,0.0001895927],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8862771,0.004793826,0.1016154,0.0007916412,0.0001177344,0.000223149,0.003203943,0.0007405322,0.002236579],"genre_scores_gemma":[0.9591675,0.0006406849,0.03730381,0.0001774081,0.00009280482,0.00008523675,0.001814276,0.00008939519,0.0006287449],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004474791,"threshold_uncertainty_score":0.01607507,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02753644948299783,"score_gpt":0.3248954559038205,"score_spread":0.2973590064208227,"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."}}