{"id":"W4244266818","doi":"10.1007/978-1-84882-927-5_8","title":"Genetic Studies","year":2009,"lang":"en","type":"book-chapter","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"","keywords":"Genetics; Single-nucleotide polymorphism; Biology; Human genome; Nonsense mutation; Gene; Missense mutation; Genome; Mutation; Coding region; Genotype","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":[0.001222291,0.0005298092,0.000488799,0.001437025,0.0005914293,0.001166233,0.001070338,0.001044424,0.05168477],"category_scores_gemma":[0.001644499,0.0002181938,0.0004397807,0.001041622,0.001317431,0.001070038,0.001237456,0.00131655,0.02339882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007401638,"about_ca_system_score_gemma":0.001255871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001524688,"about_ca_topic_score_gemma":0.002642031,"domain_scores_codex":[0.9994248,0.0001319568,0.00002238058,0.0001593154,0.0002154064,0.00004612154],"domain_scores_gemma":[0.9994389,0.0002111405,0.0000269933,0.0001378338,0.0001222571,0.00006282647],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001332632,0.0001268778,0.002307192,0.0006391401,0.00005152242,0.001492186,0.0005425558,0.0003146958,0.01343769,0.1779899,0.2745971,0.5283679],"study_design_scores_gemma":[0.00001025243,0.0000213136,0.001181109,0.0001644373,0.00001548539,0.002314206,0.0001047988,0.00008421552,0.002252898,0.02291515,0.9709274,0.00000865557],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.005346929,0.03548641,0.05313853,0.008801349,0.002357376,0.0002517558,0.002290346,0.0006953813,0.8916318],"genre_scores_gemma":[0.05136175,0.04211004,0.04989932,0.009803377,0.001757784,0.0003841035,0.004062469,0.0003710975,0.8402501],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.05168477,"threshold_uncertainty_score":0.1729028,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01659565660822962,"score_gpt":0.250096771247675,"score_spread":0.2335011146394454,"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."}}