{"id":"W4283321186","doi":"10.1007/s00439-022-02466-5","title":"A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings","year":2022,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Institute for Cancer Research; Sinai Health System; St. Michael's Hospital; Sunnybrook Health Science Centre; Hospital for Sick Children; University of Toronto; Bombardier (Canada); Health Sciences Centre; University Health Network; Princess Margaret Cancer Centre; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Canadian Cancer Society Research Institute; Canadian Institutes of Health Research; McLaughlin Family Foundation","keywords":"Exome sequencing; Human genetics; Genetic counseling; Primary care; Genomic sequencing; Genetic testing; Exome; Biology; Test (biology); Disease; Bioinformatics; Family medicine; Genome; Medicine; Internal medicine; Gene; Genetics; Mutation","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.01177058,0.00124594,0.001305479,0.007590944,0.001314597,0.0039312,0.001577812,0.001775305,0.037047],"category_scores_gemma":[0.04581537,0.0009206021,0.000777868,0.00413883,0.0006780192,0.00328911,0.003639855,0.001925089,0.0222919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001168185,"about_ca_system_score_gemma":0.005056946,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003780232,"about_ca_topic_score_gemma":0.002118376,"domain_scores_codex":[0.9937974,0.002201544,0.001988097,0.0005197242,0.001180661,0.0003126079],"domain_scores_gemma":[0.9417838,0.02551629,0.004997223,0.01187482,0.01423266,0.001595261],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007768854,0.000208371,0.0128292,0.0008187394,0.0001182495,0.001884362,0.0007791138,0.003892795,0.01102089,0.02501329,0.5330194,0.4096387],"study_design_scores_gemma":[0.0003948978,0.0003900611,0.01512721,0.0009093148,0.0003317965,0.006739209,0.000823319,0.02193017,0.03731081,0.03512872,0.8805318,0.0003826515],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.01639394,0.001970164,0.6888376,0.0198521,0.002775503,0.004317366,0.1107314,0.1041275,0.0509944],"genre_scores_gemma":[0.08673478,0.002015655,0.7503089,0.006723281,0.002317173,0.003572254,0.1186777,0.007007407,0.02264282],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.9882294,"threshold_uncertainty_score":0.1239346,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03798811758917485,"score_gpt":0.3062085465106011,"score_spread":0.2682204289214263,"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."}}