{"id":"W7076958440","doi":"","title":"Liebenberg syndrome severity arises from variations in <i>Pitx1</i> locus topology and proportion of ectopically transcribing cells","year":2025,"lang":"en","type":"article","venue":"Archive ouverte UNIGE (University of Geneva)","topic":"Theoretical and Computational Physics","field":"Physics and Astronomy","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics and Genomics of Geneva; Canadian Institutes of Health Research; Université de Genève; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Science Foundation","keywords":"Enhancer; Locus (genetics); Phenotype; Transcription factor; Ectopic expression; Chromatin; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003770742,0.00007447865,0.0001955297,0.0000693551,0.00007187685,0.000003533534,0.0001189958,0.0000268294,0.00008105581],"category_scores_gemma":[0.000001958436,0.00008625008,0.0000622279,0.0001266613,0.0001918764,0.00006763668,0.00006993156,0.00008813457,0.000001524902],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001027642,"about_ca_system_score_gemma":0.00006397466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001648022,"about_ca_topic_score_gemma":0.0001519799,"domain_scores_codex":[0.9994875,0.00007170963,0.0001126691,0.0001605508,0.000072118,0.00009551572],"domain_scores_gemma":[0.999649,0.0001234546,0.00006490439,0.00009200726,0.00003782004,0.00003274988],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0001296053,0.0002680013,0.043613,0.00003880744,0.0001582371,0.000006556675,0.001548278,0.000630081,0.01333755,0.9282938,0.00004175935,0.01193438],"study_design_scores_gemma":[0.001140746,0.0001081174,0.2372451,0.00006788772,0.0001082809,2.101115e-7,0.001036184,0.009725815,0.002778318,0.747491,0.0001440912,0.0001542151],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7679696,0.000008723596,0.2291794,0.0001562679,0.00003334503,0.00008700715,0.0001178246,0.000005177584,0.002442643],"genre_scores_gemma":[0.9972008,0.000006698582,0.002625374,0.00001669432,0.000007414998,2.49787e-7,0.00004650535,0.000002577821,0.00009364515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2292313,"threshold_uncertainty_score":0.3517176,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00301185404979447,"score_gpt":0.1717917296104979,"score_spread":0.1687798755607034,"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."}}