{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004998338,0.0001264973,0.0001227775,0.00003722413,0.0003690906,0.00004078795,0.0001996026,0.00004087266,0.000008854283],"category_scores_gemma":[0.00004142238,0.00008475592,0.00008439094,0.0000488021,0.0004064316,0.000005575959,0.00004500135,0.0001991068,0.000001501649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001234868,"about_ca_system_score_gemma":0.00008798518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":8.214188e-7,"about_ca_topic_score_gemma":0.000008850898,"domain_scores_codex":[0.9987359,0.0004006198,0.0002227003,0.0001554998,0.0002893071,0.0001959968],"domain_scores_gemma":[0.9992269,0.00002387269,0.0001881508,0.0002059942,0.0002165482,0.0001385238],"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":[0.0006641389,0.0002928248,0.06437524,0.00002045522,0.0004995887,0.0005888829,0.0007612018,0.0000316531,0.9115802,0.00003643919,0.01080732,0.01034207],"study_design_scores_gemma":[0.002010524,0.003022474,0.8916169,0.0000922336,0.00006942578,0.001754418,0.00006666473,0.00002359067,0.0665307,0.00006354475,0.03445694,0.0002925284],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975448,0.00125754,0.0002281349,0.000235451,0.00003904712,0.00007694729,0.000003842613,0.000003405349,0.0006108611],"genre_scores_gemma":[0.9966922,0.001741833,0.0000856138,0.00008935559,0.0002812879,4.803225e-7,0.000006003565,0.00002971377,0.001073457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8450495,"threshold_uncertainty_score":0.3456246,"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."}}