{"id":"W2057513311","doi":"10.1186/1753-6561-5-s9-s85","title":"A pathway-based association analysis model using common and rare variants","year":2011,"lang":"en","type":"article","venue":"BMC Proceedings","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; Princess Margaret Cancer Centre","funders":"National Institutes of Health","keywords":"Genetic association; Genome-wide association study; Genetic variants; Computational biology; Disease; Rare disease; Linkage (software); Genetics; Medicine; Bioinformatics; Biology; Genotype; Single-nucleotide polymorphism; Gene; Internal medicine","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":[0.005072761,0.001067715,0.0014329,0.001592577,0.0008296279,0.002293955,0.003028736,0.002543417,0.009919152],"category_scores_gemma":[0.0104448,0.0006540384,0.002289502,0.001887319,0.001542534,0.001874059,0.00165643,0.002333424,0.001404262],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001143398,"about_ca_system_score_gemma":0.002414818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01122669,"about_ca_topic_score_gemma":0.007188542,"domain_scores_codex":[0.9979577,0.001054365,0.00008172535,0.0005449105,0.0001899108,0.0001713528],"domain_scores_gemma":[0.9952494,0.003664374,0.0002999222,0.0002197895,0.0003475143,0.0002189549],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0007998298,0.0001743252,0.01278047,0.0002070913,0.000541289,0.001075916,0.0005276141,0.6405401,0.002686444,0.3072853,0.002524566,0.030857],"study_design_scores_gemma":[0.0002138289,0.0001201745,0.001027869,0.00002164412,0.0001879549,0.0003972534,0.0000487264,0.8455409,0.0002028235,0.1502122,0.001988302,0.00003830247],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.05938859,0.0004747481,0.9284723,0.003537946,0.0001202886,0.0002263572,0.001958672,0.0004861358,0.005334994],"genre_scores_gemma":[0.7381464,0.001491068,0.2321402,0.0008158772,0.0001697892,0.001239212,0.001883709,0.0001189366,0.02399484],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01122669,"threshold_uncertainty_score":0.0331828,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04354296157432311,"score_gpt":0.2617053544085317,"score_spread":0.2181623928342086,"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."}}