{"id":"W4400124955","doi":"10.1002/gepi.22579","title":"Statistics to prioritize rare variants in family‐based sequencing studies with disease subtypes","year":2024,"lang":"en","type":"article","venue":"Genetic Epidemiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Canada's Michael Smith Genome Sciences Centre; Simon Fraser University","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Statistical Sciences Institute; Canadian Institutes of Health Research","keywords":"Biology; Genetics; Exome sequencing; Mendelian inheritance; Genetic association; Disease; Transmission disequilibrium test; Linkage disequilibrium; Computational biology; Association test; Statistical power; Evolutionary biology; Allele; Statistics; Mutation; Gene; Haplotype; Single-nucleotide polymorphism; Genotype; Medicine; Mathematics","routes":{"ca_aff":true,"ca_fund":true,"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":[0.04485875,0.00112786,0.002115202,0.004569023,0.0006868941,0.001709292,0.002088571,0.001282719,0.004482014],"category_scores_gemma":[0.144414,0.0006684631,0.001784442,0.004333903,0.001189015,0.001733421,0.001669141,0.002048588,0.0005212958],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009387982,"about_ca_system_score_gemma":0.002411255,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003173003,"about_ca_topic_score_gemma":0.005673113,"domain_scores_codex":[0.9784445,0.01650257,0.001388338,0.001855886,0.001491365,0.0003173299],"domain_scores_gemma":[0.7048658,0.2705587,0.01037385,0.007476299,0.00495899,0.001766362],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.002484235,0.0004886754,0.3284438,0.001303646,0.00501249,0.00115761,0.0008577396,0.2372991,0.004371005,0.04362977,0.01382105,0.3611309],"study_design_scores_gemma":[0.0008328132,0.001207384,0.0500737,0.0002782795,0.001267656,0.001030829,0.0003399868,0.8561807,0.003858861,0.07608799,0.008701703,0.0001402076],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.07356273,0.001007627,0.9200534,0.0008624327,0.000107694,0.0007472853,0.001177891,0.001241526,0.001239524],"genre_scores_gemma":[0.4533933,0.0004928677,0.5402485,0.0004770609,0.0001855272,0.001416515,0.002054233,0.000328014,0.001403984],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.04485875,"threshold_uncertainty_score":0.2372386,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04938784447999319,"score_gpt":0.338328301410352,"score_spread":0.2889404569303588,"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."}}