{"id":"W4293229719","doi":"10.1016/j.gim.2022.01.216","title":"eP180: Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Polygenic risk score; Multifactorial Inheritance; Medicine; Genetics; Computational biology; Bioinformatics; Biology; Single-nucleotide polymorphism; Genotype; Gene","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":[0.0009870445,0.001187316,0.0005886321,0.004130067,0.0002692082,0.0008854374,0.0005394783,0.0007259211,0.005970016],"category_scores_gemma":[0.003425002,0.000156936,0.0005564187,0.002181449,0.0002180075,0.0004749917,0.0006578749,0.000715011,0.001305528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001247742,"about_ca_system_score_gemma":0.0002383798,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005103829,"about_ca_topic_score_gemma":0.0004420158,"domain_scores_codex":[0.9994135,0.0002325381,0.0000665438,0.0001084178,0.0001312119,0.00004783198],"domain_scores_gemma":[0.9984519,0.0006494996,0.0004629452,0.00009381412,0.0001604628,0.0001813772],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.001540991,0.0002124468,0.9204314,0.0001489544,0.0005324403,0.002036031,0.0001375777,0.001052638,0.01106171,0.001575422,0.002297059,0.0589733],"study_design_scores_gemma":[0.0001051192,0.000830762,0.9665298,0.00005870982,0.0006432105,0.008978723,0.0001590899,0.009344349,0.004062832,0.003863629,0.00535384,0.00006978023],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9690071,0.001757008,0.01680727,0.0005084623,0.0001587707,0.00006142717,0.003863187,0.0005550957,0.007281844],"genre_scores_gemma":[0.9827061,0.0004553825,0.01198931,0.00008717408,0.0002020081,0.00005995233,0.002290116,0.00005773989,0.002152203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005970016,"threshold_uncertainty_score":0.01997167,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03411703625541213,"score_gpt":0.3129339931499315,"score_spread":0.2788169568945194,"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."}}