{"id":"W3120961432","doi":"10.1016/j.ajhg.2020.11.013","title":"A dyadic approach to the delineation of diagnostic entities in clinical genomics","year":2021,"lang":"en","type":"review","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":116,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University; Alberta Children's Hospital; University of Calgary","funders":"National Institute of Dental and Craniofacial Research; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Cancer Institute; National Institutes of Health; Alex's Lemonade Stand Foundation for Childhood Cancer; University of Washington; Damon Runyon Cancer Research Foundation","keywords":"Genomics; Computational biology; Computer science; Biology; Genetics; Genome; 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":[0.003648602,0.00135906,0.002833846,0.005207028,0.0004494964,0.002180741,0.00220375,0.002055583,0.002576874],"category_scores_gemma":[0.004692091,0.0004202788,0.0009471334,0.003818939,0.00192456,0.002453219,0.00198811,0.003932221,0.00120418],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001958115,"about_ca_system_score_gemma":0.002558912,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002692892,"about_ca_topic_score_gemma":0.003852855,"domain_scores_codex":[0.9988373,0.0005042356,0.0001661643,0.0001635345,0.0002572312,0.0000715671],"domain_scores_gemma":[0.9972996,0.001788392,0.0001833024,0.00006564676,0.0005382103,0.0001248567],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.00008443355,0.00005044196,0.001249883,0.008199865,0.0002633263,0.0009141135,0.0001623204,0.0005519833,0.0003995762,0.02205248,0.03379162,0.9322799],"study_design_scores_gemma":[0.00009006216,0.0001739841,0.005229237,0.01364042,0.0007431681,0.01248879,0.0005526953,0.0008127973,0.0003686112,0.03588269,0.9299057,0.0001117925],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001243333,0.9951551,0.001927614,0.001393603,0.0004085561,0.00001113028,0.00002243637,0.00001413766,0.0009431759],"genre_scores_gemma":[0.002719173,0.9902585,0.0039432,0.001087652,0.001249426,0.00003525484,0.00009599541,0.000006750588,0.0006039874],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005207028,"threshold_uncertainty_score":0.01929593,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04308084578434412,"score_gpt":0.3442161579563004,"score_spread":0.3011353121719563,"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."}}