{"id":"W2031486396","doi":"10.1371/journal.pgen.1000522","title":"Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening","year":2009,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal University Hospital","funders":"National Human Genome Research Institute; Vlaamse regering; National Institutes of Health; Universiteit Gent; Fonds Wetenschappelijk Onderzoek","keywords":"Biology; Genetics; DNA; Mutation; Coding region; Promoter; Gene; Conserved sequence; Computational biology; Base sequence; Gene expression","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001084366,0.0001475808,0.00009249421,0.00003206839,0.0002507851,0.00006897912,0.00007260092,0.00005464822,7.338204e-7],"category_scores_gemma":[0.00003280946,0.0001109091,0.00004212911,0.00006384489,0.00005122419,0.000008754479,0.00002544225,0.00006084048,1.566157e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000129351,"about_ca_system_score_gemma":0.00003184243,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001440217,"about_ca_topic_score_gemma":0.00001715474,"domain_scores_codex":[0.9993177,0.00002202617,0.0001526993,0.000261697,0.00006377007,0.0001821177],"domain_scores_gemma":[0.999494,0.00003766124,0.00008766828,0.0002095985,0.0001032421,0.00006789787],"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":[0.00006503995,0.00002482507,0.001546945,0.00003929684,0.00004947621,4.30443e-7,0.000275969,0.005520999,0.9806728,0.00002914806,0.00003025164,0.01174485],"study_design_scores_gemma":[0.0006369763,0.0005558945,0.0408158,0.0001456413,0.0001571918,0.00005264717,0.0008066196,0.1103415,0.8452604,0.0002335874,0.000587461,0.0004062881],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7192969,0.0005606042,0.279038,0.0006335391,0.00002442789,0.0004015636,0.00001334786,0.00001554792,0.00001609893],"genre_scores_gemma":[0.9954001,0.00006351586,0.004033568,0.0001273626,0.0001762408,0.00006935008,0.00009737476,0.00002036102,0.00001216209],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2761032,"threshold_uncertainty_score":0.452274,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02279365488847326,"score_gpt":0.3011636568500238,"score_spread":0.2783700019615506,"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."}}