{"id":"W2164753260","doi":"10.3109/13816810.2011.567319","title":"BBS Mutational Analysis: A Strategic Approach","year":2011,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Hospital for Sick Children; Foundation Fighting Blindness","keywords":"Genetics; Biology; Allele; Context (archaeology); Allelic heterogeneity; Mutation; Bioinformatics; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006234165,0.001459031,0.0009263037,0.00717051,0.0008330906,0.002514509,0.001703464,0.001213197,0.003371856],"category_scores_gemma":[0.004987903,0.0005652005,0.0006881105,0.00240199,0.001477,0.001585548,0.003848936,0.001969233,0.00200246],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001221062,"about_ca_system_score_gemma":0.002520506,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001447928,"about_ca_topic_score_gemma":0.002467185,"domain_scores_codex":[0.9966215,0.001292157,0.0004162219,0.0005410881,0.0008517383,0.000277294],"domain_scores_gemma":[0.9967422,0.0009309584,0.0002567523,0.0003283095,0.001230836,0.0005109486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008617879,0.0006453178,0.1559,0.002187344,0.0003609591,0.01548431,0.002705755,0.002811288,0.06988981,0.01613164,0.01730733,0.7157144],"study_design_scores_gemma":[0.0003285872,0.002912567,0.1864846,0.003826343,0.001421298,0.1940444,0.01138032,0.04146456,0.07285724,0.1195057,0.3651603,0.0006139743],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.2159563,0.03330524,0.6830401,0.01831497,0.0008427242,0.002086741,0.001264894,0.002583167,0.04260574],"genre_scores_gemma":[0.5444008,0.01913244,0.4193397,0.006973069,0.000905869,0.000724851,0.0019642,0.0004407022,0.006118399],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00717051,"threshold_uncertainty_score":0.03296983,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04781312477030361,"score_gpt":0.253573443391291,"score_spread":0.2057603186209874,"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."}}