{"id":"W2012557807","doi":"10.1038/ejhg.2008.245","title":"The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P","year":2008,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Institute of Dental and Craniofacial Research; National Human Genome Research Institute; National Institutes of Health","keywords":"Genetics; Single-nucleotide polymorphism; Biology; Allele; Locus (genetics); SNP; Genetic association; Genotyping; Promoter; Gene; Genotype; Molecular biology; 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":[0.0003318372,0.001083814,0.0005678967,0.001359256,0.000604277,0.0004487911,0.000574649,0.001555161,0.006322106],"category_scores_gemma":[0.002017466,0.000349654,0.0007373386,0.000918034,0.000591738,0.0001677329,0.0003885377,0.001189445,0.0007743465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000261027,"about_ca_system_score_gemma":0.0003065442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003051301,"about_ca_topic_score_gemma":0.001974093,"domain_scores_codex":[0.9990496,0.0002582776,0.0001091346,0.0002759137,0.0002079295,0.0000991636],"domain_scores_gemma":[0.9975267,0.001086513,0.0008802725,0.0001508083,0.0001004265,0.0002552182],"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":[0.01037876,0.0006201386,0.1837498,0.0004281469,0.0006920212,0.01858669,0.0006491551,0.001173405,0.7602531,0.001179284,0.002974196,0.01931537],"study_design_scores_gemma":[0.0008836535,0.001163562,0.8460126,0.0002036139,0.0008241616,0.05204138,0.000406587,0.005305497,0.08404825,0.002104026,0.006885567,0.0001211778],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939043,0.0006351724,0.001639995,0.0005486796,0.0001155306,0.00002756205,0.001450399,0.0001195272,0.00155889],"genre_scores_gemma":[0.9972753,0.0001421548,0.0007727186,0.0001609397,0.00009678466,0.00002871851,0.0005782496,0.00005187669,0.0008932899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006322106,"threshold_uncertainty_score":0.02114958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04149488527652977,"score_gpt":0.2659400404814019,"score_spread":0.2244451552048721,"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."}}