{"id":"W4224324499","doi":"10.1016/j.gim.2022.03.022","title":"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":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; McGill University; Jewish General Hospital","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Medical Research Council; Jewish General Hospital; Public Health Agency; Compute Canada; National Institutes of Health; Public Health Agency of Canada; Cancer Research UK; McGill University","keywords":"Exome sequencing; Disease; Medicine; Biobank; Family history; Polygenic risk score; Genetics; Genetic testing; Biology; Internal medicine; Genotype; Mutation; Single-nucleotide polymorphism; Gene","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":[0.002447641,0.001292766,0.0008653623,0.005452586,0.0004515021,0.00146355,0.0008129721,0.0008902141,0.004018659],"category_scores_gemma":[0.01013003,0.0002799656,0.0008878984,0.003017907,0.0003863878,0.0007662464,0.0008792853,0.001013778,0.0006044567],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001801039,"about_ca_system_score_gemma":0.0005473551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001605099,"about_ca_topic_score_gemma":0.001518356,"domain_scores_codex":[0.9980687,0.001122708,0.0001707159,0.000243454,0.0003153947,0.00007889967],"domain_scores_gemma":[0.9944504,0.003150259,0.001083739,0.0004264453,0.0004812033,0.00040794],"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":[0.0004708918,0.0001260806,0.964537,0.00007685258,0.0005691698,0.0005381653,0.0001012388,0.00092241,0.001816459,0.001604852,0.0006982062,0.02853876],"study_design_scores_gemma":[0.00007042842,0.0006595479,0.9631937,0.00007617469,0.001146114,0.003505737,0.000230734,0.02209761,0.001305538,0.005262144,0.002383278,0.00006916496],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9410061,0.00405533,0.04333247,0.001084698,0.0002035721,0.00009246666,0.002870761,0.0005676973,0.006786942],"genre_scores_gemma":[0.9825802,0.0005009168,0.0148439,0.00007445776,0.0001266274,0.00004117344,0.000874468,0.00002564785,0.0009325181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005452586,"threshold_uncertainty_score":0.01344377,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0493844387565157,"score_gpt":0.3411671682884442,"score_spread":0.2917827295319285,"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."}}