{"id":"W2379340898","doi":"10.1093/ije/dyw047","title":"Software Application Profile: RVPedigree: a suite of family-based rare variant association tests for normally and non-normally distributed quantitative traits","year":2016,"lang":"en","type":"article","venue":"International Journal of Epidemiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital; McGill University Health Centre; Université Laval; Université du Québec à Montréal","funders":"Canadian Institutes of Health Research","keywords":"Genome-wide association study; Pedigree chart; Suite; Computer science; Genetic association; Software; Quantitative trait locus; Population; Computational biology; Biology; Data mining; Genetics; Medicine; Single-nucleotide polymorphism; Genotype","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":[0.003508225,0.002556211,0.00240569,0.003472609,0.0007366689,0.002504181,0.004880271,0.001617192,0.2089047],"category_scores_gemma":[0.02646676,0.002230379,0.002429652,0.002912188,0.000684857,0.00197042,0.003486264,0.002327229,0.1033257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006900626,"about_ca_system_score_gemma":0.002256198,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004151642,"about_ca_topic_score_gemma":0.00549507,"domain_scores_codex":[0.9979791,0.0004991829,0.0002545137,0.0005696582,0.0005470213,0.0001505707],"domain_scores_gemma":[0.9883327,0.008008502,0.0008489361,0.001180323,0.001174641,0.0004549771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006584123,0.00008645398,0.005763572,0.00192968,0.0005483731,0.0004948124,0.0002042687,0.005146963,0.002421608,0.003665138,0.8888772,0.09020353],"study_design_scores_gemma":[0.002266334,0.0002976074,0.01720843,0.0008826458,0.0005014811,0.00317509,0.0001538956,0.0837585,0.01313972,0.06505566,0.8129327,0.0006279295],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"software","genre_gemma":"software","genre_scores_codex":[0.00323467,0.0005214516,0.3067715,0.0008349629,0.0003646009,0.0007694805,0.1866054,0.491529,0.009368879],"genre_scores_gemma":[0.03146048,0.0008151759,0.4566332,0.00185859,0.0003511184,0.004806149,0.2490108,0.2306037,0.02446073],"genre_candidate":"software","genre_consensus":"software","teacher_disagreement_score":0.2089047,"threshold_uncertainty_score":0.6988559,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02535654041012954,"score_gpt":0.3289185811781354,"score_spread":0.3035620407680059,"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."}}