{"id":"W1977288855","doi":"10.1086/429346","title":"Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations","year":2005,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":277,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centracare; Health Sciences Centre","funders":"National Institute of Child Health and Human Development; National Institute of General Medical Sciences; University of North Carolina at Chapel Hill; National Institutes of Health; Cedars-Sinai Medical Center; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Dartmouth College","keywords":"GLI3; Phenotype; Genetics; Position (finance); Biology; Gene","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":[0.0007550764,0.0009261152,0.0003475702,0.001908676,0.0002769856,0.0004389485,0.0003834758,0.000607228,0.001639884],"category_scores_gemma":[0.002409688,0.0003378874,0.0003996462,0.0005074184,0.0006679578,0.0002214229,0.0004373413,0.0005105644,0.0004153367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002363917,"about_ca_system_score_gemma":0.0002699706,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009040237,"about_ca_topic_score_gemma":0.001251473,"domain_scores_codex":[0.9994357,0.0001530745,0.00007790652,0.0001297484,0.0001358598,0.0000676359],"domain_scores_gemma":[0.9990429,0.0005500314,0.0001822818,0.00006323264,0.00004939681,0.0001120104],"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":[0.003542904,0.0001659348,0.3798553,0.00009594679,0.0002237605,0.01752866,0.0003970264,0.003510277,0.5667393,0.001137988,0.0004578143,0.02634508],"study_design_scores_gemma":[0.0001319939,0.0005628341,0.897011,0.00001959008,0.0001993422,0.02945236,0.0002598475,0.007115314,0.06300618,0.001063732,0.001132404,0.00004524464],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972473,0.0001871813,0.001166312,0.00006720815,0.000007200593,0.00001429801,0.0004589485,0.00003334013,0.0008181934],"genre_scores_gemma":[0.9980047,0.00007415946,0.001383526,0.00003364244,0.000008732084,0.000009943806,0.0002806754,0.00001999408,0.0001846383],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001908676,"threshold_uncertainty_score":0.005485892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05228957592634791,"score_gpt":0.3465856232504548,"score_spread":0.2942960473241069,"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."}}