{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001277098,0.0003049251,0.0005962719,0.0001726193,0.00008500952,0.00001228908,0.0002233305,0.0002138943,0.00001893378],"category_scores_gemma":[0.003595539,0.0002550825,0.00007933474,0.0002792127,0.0001727401,0.000003121,0.0001248551,0.0001853173,0.00005418324],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000123387,"about_ca_system_score_gemma":0.0005724449,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009888447,"about_ca_topic_score_gemma":0.0003625305,"domain_scores_codex":[0.9968423,0.0007679549,0.0006805805,0.0008933,0.00009841344,0.0007174003],"domain_scores_gemma":[0.9981524,0.0008501114,0.0001035049,0.0004937007,0.0001425862,0.0002577134],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005186526,0.0001103954,0.8122705,0.0005354768,0.0006400643,0.000561333,0.0004644906,0.09511746,0.02130644,0.003183001,0.04250583,0.02278639],"study_design_scores_gemma":[0.0007871612,0.0009834864,0.9580377,0.0002615399,0.0001421889,0.00003748699,0.0004242293,0.01265552,0.0002305236,0.009697012,0.01599148,0.0007516388],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8063748,0.02107892,0.1681813,0.002909589,0.0005317475,0.000515239,0.0002159281,0.000047584,0.0001448723],"genre_scores_gemma":[0.8382035,0.001207278,0.1550758,0.004394598,0.0003039089,0.0001916986,0.0001813626,0.00005042926,0.000391442],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1457673,"threshold_uncertainty_score":0.9999902,"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."}}