{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002428152,0.0001627641,0.0002203672,0.00003237709,0.000548841,0.00004258909,0.0003146378,0.00007532576,0.00003313944],"category_scores_gemma":[0.00004906173,0.0001799784,0.0001146231,0.00002710069,0.0001014662,0.000001332997,0.0008474644,0.0001919314,2.858989e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002525724,"about_ca_system_score_gemma":0.0001282327,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006036822,"about_ca_topic_score_gemma":0.000004552167,"domain_scores_codex":[0.9984828,0.00007357077,0.0006928722,0.0004063112,0.00009580551,0.0002486489],"domain_scores_gemma":[0.9987915,0.00004063665,0.0005055527,0.0004911317,0.00007706737,0.00009413364],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006831248,0.00004546545,0.006329818,0.00008036244,0.00009463444,0.000009104559,0.0002714897,0.000320062,0.9895316,0.00004866374,0.001331536,0.001868904],"study_design_scores_gemma":[0.005499896,0.00440126,0.3227037,0.00003550847,0.0004352129,0.0004260351,0.003714166,0.001077365,0.03578305,0.003396919,0.6203509,0.002175993],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962212,0.002657364,0.0000728393,0.00005563344,0.00008375067,0.0004016673,0.0003215387,0.00001124198,0.0001747239],"genre_scores_gemma":[0.9914593,0.0001722124,0.005388069,0.001377423,0.0001263964,0.00004779889,0.001265022,0.00004465325,0.0001191542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9537486,"threshold_uncertainty_score":0.7339306,"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."}}