{"id":"W4390805881","doi":"10.1101/2024.01.10.24301111","title":"Complex trait associations in rare diseases and impacts on Mendelian variant interpretation","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institutes of Health; Children's Mercy Hospital","keywords":"Mendelian inheritance; Proband; Penetrance; Disease; Genetics; Biology; Candidate gene; Phenotype; Trait; Quantitative trait locus; Multifactorial Inheritance; Mendelian randomization; Exome sequencing; Gene; Medicine; Single-nucleotide polymorphism; Genotype; Mutation; Genetic variants; 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":[0.007851196,0.0006616924,0.0008648735,0.002195029,0.0005098991,0.002397831,0.0006466777,0.0005843745,0.003267896],"category_scores_gemma":[0.0320082,0.0002568387,0.0006512245,0.001973471,0.001375422,0.0006708333,0.001762955,0.0007529197,0.0003043227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000356459,"about_ca_system_score_gemma":0.0004651204,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002017506,"about_ca_topic_score_gemma":0.002110211,"domain_scores_codex":[0.9919364,0.00416169,0.0006249197,0.001752766,0.001162157,0.000362045],"domain_scores_gemma":[0.9809886,0.0124853,0.002803594,0.002955087,0.000403851,0.000363628],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006581734,0.00003365737,0.8953209,0.0003234849,0.001668363,0.003798076,0.001324383,0.003015301,0.01384401,0.009512156,0.002340506,0.068161],"study_design_scores_gemma":[0.0001378217,0.000156362,0.9081844,0.0002324836,0.001018511,0.009380065,0.0006585814,0.01677889,0.006864265,0.05025207,0.006238345,0.00009811229],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9262536,0.003417761,0.06229546,0.001354556,0.0001307876,0.00005359056,0.002223353,0.0005234996,0.003747452],"genre_scores_gemma":[0.9894605,0.0004095537,0.009023447,0.000147806,0.00007393258,0.00001966361,0.0005315663,0.000103446,0.0002301082],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007851196,"threshold_uncertainty_score":0.04152161,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01626864753973347,"score_gpt":0.2764971882940284,"score_spread":0.2602285407542949,"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."}}