{"id":"W4309600468","doi":"10.21203/rs.3.rs-2159360/v1","title":"Contribution of rare coding variants to complex trait heritability","year":2022,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Impact; Thrombosis and Atherosclerosis Research Institute; St. Joseph’s Healthcare Hamilton; Hamilton Health Sciences; McMaster University; Population Health Research Institute","funders":"Medical Research Council; McMaster University","keywords":"Trait; Heritability; Coding (social sciences); Genetics; Biology; Computational biology; Evolutionary biology; Computer science; Statistics; 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":[0.002425527,0.0009695806,0.001285006,0.001863489,0.0006008495,0.001710783,0.000813983,0.00159061,0.01104823],"category_scores_gemma":[0.01797695,0.0005975199,0.0009126832,0.001576735,0.001179293,0.0009107058,0.001117388,0.001654356,0.0008366641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002761521,"about_ca_system_score_gemma":0.0003970626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002052762,"about_ca_topic_score_gemma":0.001234172,"domain_scores_codex":[0.9973087,0.0009272174,0.0001735907,0.0008548258,0.0005209364,0.000214647],"domain_scores_gemma":[0.9863625,0.0106596,0.0006867537,0.001611629,0.0003353206,0.0003440967],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004292794,0.0002779011,0.4090568,0.001286673,0.005396108,0.02864733,0.00248426,0.02075275,0.08025964,0.1602594,0.01112806,0.2761583],"study_design_scores_gemma":[0.0007576227,0.000242878,0.4211652,0.0004900533,0.004491085,0.02931505,0.0006140887,0.05596473,0.01802148,0.4524857,0.01624299,0.0002090527],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8210291,0.009338118,0.1466867,0.004046199,0.0007547064,0.00005227828,0.004206345,0.00116478,0.01272167],"genre_scores_gemma":[0.9854169,0.001591555,0.008821417,0.0002345831,0.0004636081,0.00002699756,0.0008183392,0.0002317003,0.002394804],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01104823,"threshold_uncertainty_score":0.03696001,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06176912654584143,"score_gpt":0.3847657464888505,"score_spread":0.322996619943009,"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."}}