{"id":"W1540773722","doi":"10.1111/cge.12301","title":"Exome sequencing identifies mutations in <i><scp>KIF14</scp></i> as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype","year":2013,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":107,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Ciliopathy; Biology; Microcephaly; Phenotype; Genetics; Cilium; Exome sequencing; Ciliopathies; Mutation; Ciliogenesis; 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":[0.0001180965,0.0007219039,0.000322649,0.0008722873,0.0003006711,0.0003117899,0.0003227333,0.001052317,0.001613028],"category_scores_gemma":[0.0003345544,0.0001670137,0.000328238,0.0003461414,0.0003532719,0.0001238844,0.0004346315,0.0004505604,0.0003350034],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002579174,"about_ca_system_score_gemma":0.0002421645,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001661157,"about_ca_topic_score_gemma":0.002880074,"domain_scores_codex":[0.9998056,0.00001133719,0.00002076773,0.00006377353,0.00006596938,0.00003265668],"domain_scores_gemma":[0.9997891,0.00005424075,0.00005489787,0.00001222675,0.00002098075,0.00006858603],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003132079,0.00009421368,0.02984283,0.000192349,0.0001226909,0.1727509,0.0002711265,0.0007188926,0.771835,0.001035141,0.001667784,0.02115596],"study_design_scores_gemma":[0.00009008628,0.000396777,0.2899937,0.00009021636,0.0002462997,0.4597272,0.0002032419,0.006022905,0.231179,0.0007139227,0.01127776,0.00005895845],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914278,0.0004515682,0.004153636,0.0002619892,0.00003356611,0.00006847459,0.00129601,0.0001584747,0.002148498],"genre_scores_gemma":[0.9924542,0.0004435079,0.003828135,0.0001603882,0.00002868499,0.00002883923,0.001081284,0.00004863491,0.001926434],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001661157,"threshold_uncertainty_score":0.005396068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0367535766999952,"score_gpt":0.3271470217343443,"score_spread":0.2903934450343492,"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."}}