{"id":"W3048740200","doi":"10.1101/2020.08.13.249334","title":"Pleiotropy in <i>FOXC1</i> -attributable phenotypes involves altered ciliation and cilia-dependent signaling","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research; Alberta Innovates; University of Toronto; National University of Singapore; University of Alberta; Göteborgs Universitet; Children's Health Research Institute","keywords":"Cilium; Ciliogenesis; Biology; Intraflagellar transport; Ciliopathies; Cell biology; Transcription factor; Ciliopathy; Phenotype; Forkhead Transcription Factors; GLI2; Bardet–Biedl syndrome; Wnt signaling pathway; Choroid plexus; Motile cilium; Hedgehog signaling pathway; Signal transduction; Endocrinology; Genetics; Mutant; 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":[0.0002359382,0.0005184099,0.0002833774,0.0004714906,0.0002652983,0.0002946157,0.0001735567,0.000413418,0.002935119],"category_scores_gemma":[0.0001780243,0.0001638347,0.000300549,0.0001598296,0.0006201841,0.0001261677,0.0004713156,0.0005937648,0.0004263343],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003006943,"about_ca_system_score_gemma":0.0002212227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008021222,"about_ca_topic_score_gemma":0.001276927,"domain_scores_codex":[0.9997403,0.00004005817,0.00002639221,0.0000700668,0.00007660215,0.00004661708],"domain_scores_gemma":[0.9997881,0.00003430222,0.00007436484,0.00002634305,0.00001591562,0.00006090396],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001150597,0.00001369703,0.002051238,0.00002645417,0.00001197247,0.0009786885,0.00002028089,0.000107381,0.9953668,0.0002756827,0.0001342781,0.0008984022],"study_design_scores_gemma":[0.00003350166,0.0002251424,0.05142014,0.00001882322,0.00006088454,0.009931631,0.0000871194,0.002137728,0.9318283,0.0004059645,0.003834651,0.00001612234],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920592,0.0003250818,0.003879855,0.0002477813,0.00003959211,0.00002181096,0.0006388758,0.0002466948,0.002541137],"genre_scores_gemma":[0.9963701,0.0001430961,0.001360544,0.00009180023,0.00001002066,0.00001224611,0.000269661,0.0000851164,0.001657473],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002935119,"threshold_uncertainty_score":0.009818912,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01337029228487215,"score_gpt":0.2136693125791435,"score_spread":0.2002990202942713,"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."}}