{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002673087,0.0002939095,0.0003353373,0.0003515222,0.0001220864,0.000156106,0.0002343632,0.0002631106,0.0008084559],"category_scores_gemma":[0.0004361942,0.0001121843,0.0001648608,0.0001630725,0.0002777268,0.0001387287,0.0002199221,0.0002739841,0.0002001877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002090064,"about_ca_system_score_gemma":0.0001891539,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000465121,"about_ca_topic_score_gemma":0.0009094411,"domain_scores_codex":[0.9998271,0.00004194119,0.00001360554,0.00005333193,0.00004326239,0.00002080963],"domain_scores_gemma":[0.9996693,0.000137505,0.0000989254,0.0000292679,0.0000172613,0.00004768061],"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":[0.0001309197,0.00002903606,0.01323892,0.00004558479,0.0000129134,0.0007379752,0.00004946436,0.0004460658,0.980749,0.0001215638,0.00001375647,0.004424755],"study_design_scores_gemma":[0.00003760823,0.0008616779,0.2379867,0.00002974279,0.0001603935,0.01392618,0.0002650086,0.004929109,0.7382644,0.0005461039,0.002955383,0.00003773322],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957567,0.000460324,0.003343819,0.00003327789,0.000002509582,0.00001259251,0.0001274413,0.00002897079,0.0002343882],"genre_scores_gemma":[0.9928686,0.0003948685,0.005972943,0.00002262952,0.000004883925,0.00001685488,0.0003908507,0.00001063602,0.0003177339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008084559,"threshold_uncertainty_score":0.002704501,"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."}}