{"id":"W1581926946","doi":"10.1038/npg.els.0002013","title":"Autosomal Recessive Traits and Diseases","year":2006,"lang":"en","type":"other","venue":"Encyclopedia of Life Sciences","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Loss of heterozygosity; Consanguinity; Genetics; Biology; Phenotype; Mutant; Gene; Evolutionary biology; Allele","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":[0.0005384581,0.001438972,0.0009662829,0.001625441,0.0007078474,0.001425838,0.0006771755,0.0009002506,0.0348807],"category_scores_gemma":[0.001483509,0.0001366818,0.000409545,0.002464089,0.0008575966,0.0005923036,0.000969274,0.0009335953,0.0159687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005250348,"about_ca_system_score_gemma":0.0005588623,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001015856,"about_ca_topic_score_gemma":0.001141023,"domain_scores_codex":[0.9992416,0.0001701468,0.00008023863,0.0001491233,0.0002463723,0.000112519],"domain_scores_gemma":[0.9993175,0.0001891011,0.0002004433,0.00007529881,0.0001277811,0.00008978177],"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":[0.0005116421,0.000126395,0.01448119,0.002477444,0.0002507597,0.01473206,0.0003956791,0.0004988283,0.02610254,0.09161628,0.28624,0.5625671],"study_design_scores_gemma":[0.00005024614,0.00004836338,0.01106142,0.0007397318,0.00009122981,0.03350345,0.0001186027,0.0001385615,0.003696653,0.01436386,0.936155,0.00003289134],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.04670991,0.2408266,0.03360145,0.008754837,0.004122901,0.0004763328,0.03494283,0.003722499,0.6268427],"genre_scores_gemma":[0.2925729,0.1674478,0.03107726,0.006134758,0.002617585,0.0005506577,0.02728458,0.000699218,0.4716152],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.0348807,"threshold_uncertainty_score":0.1166875,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007398009793705506,"score_gpt":0.2410313517494637,"score_spread":0.2336333419557582,"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."}}