{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007416424,0.0001624347,0.0002062022,0.00008346328,0.00005095294,0.00001367044,0.000236844,0.0001440569,0.00008111262],"category_scores_gemma":[0.0001162512,0.0001356012,0.00005367716,0.00009696309,0.0004036673,0.000001991454,0.000118032,0.00003982906,0.00000300583],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001347804,"about_ca_system_score_gemma":0.0001678408,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008478276,"about_ca_topic_score_gemma":0.00004813341,"domain_scores_codex":[0.9990208,0.00002993285,0.0001815302,0.0003916725,0.0001813031,0.0001947682],"domain_scores_gemma":[0.9995756,0.0000118703,0.0002053279,0.0001023774,0.00001645909,0.00008835509],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00000457441,0.0000994578,0.06687187,0.000237397,0.00007981379,0.000002619902,0.00005524959,0.00001890484,0.004644902,0.000116214,0.9001131,0.0277559],"study_design_scores_gemma":[0.000269352,0.0002677212,0.08178629,0.0001000693,0.00003743133,0.000009578026,0.00007817211,0.000009520544,0.0002764621,0.00007909541,0.9167323,0.0003540103],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.09363033,0.02058641,0.00005960709,0.00007239213,0.0003208502,0.0001821494,0.00009193038,0.00002211769,0.8850342],"genre_scores_gemma":[0.1678963,0.01661935,0.009035113,0.000225994,0.002569103,0.00003714319,0.0000940683,0.000272685,0.8032503],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.08178395,"threshold_uncertainty_score":0.5529658,"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."}}