{"id":"W4389286008","doi":"10.1016/j.gim.2023.101036","title":"Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":false,"ca_institutions":"Sinai Health System; Toronto General Hospital; University of Toronto","funders":"National Cancer Institute; National Human Genome Research Institute; National Institutes of Health","keywords":"Penetrance; Allele; Genetics; Disease; Harmonization; Population; Allele frequency; Biology; Medicine; Environmental health; Gene; Phenotype; Pathology","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":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.2541441,0.003340174,0.0077748,0.02043776,0.003428111,0.0124351,0.01872975,0.02868555,0.01834218],"category_scores_gemma":[0.5888786,0.004096562,0.01988245,0.01356384,0.00456537,0.009786972,0.01057662,0.02901169,0.0150588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006911836,"about_ca_system_score_gemma":0.05159549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03254173,"about_ca_topic_score_gemma":0.02879309,"domain_scores_codex":[0.7411941,0.1081269,0.09953061,0.006455804,0.0390954,0.005597078],"domain_scores_gemma":[0.2971494,0.3129152,0.06033125,0.02681957,0.2851175,0.01766713],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0005631768,0.0003003727,0.003102953,0.01881273,0.001334154,0.0003206809,0.0008476447,0.001132635,0.0006060732,0.006260493,0.769179,0.1975401],"study_design_scores_gemma":[0.004605282,0.0003860356,0.01145528,0.2097564,0.005388394,0.0009147773,0.001012547,0.002924622,0.001689956,0.03658027,0.7245514,0.0007350253],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.002012188,0.05486792,0.07793049,0.7387857,0.03832538,0.02747688,0.02194113,0.002858291,0.03580205],"genre_scores_gemma":[0.01052365,0.0431077,0.4902129,0.3582646,0.01635316,0.0440039,0.02239834,0.001526,0.01360976],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.7458559,"threshold_uncertainty_score":0.9197731,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1303257319218328,"score_gpt":0.3671677807732335,"score_spread":0.2368420488514008,"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."}}