{"id":"W1968344288","doi":"10.1038/ng.580","title":"A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4","year":2010,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":594,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Dental and Craniofacial Research; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Human Genome Research Institute; Canadian Institutes of Health Research; Johns Hopkins University; University of Pittsburgh; National Institutes of Health; March of Dimes Foundation; National University of Singapore; U.S. Public Health Service; Utah State University","keywords":"ABCA4; Biology; Genome-wide association study; Genetics; Odds ratio; Single-nucleotide polymorphism; Genetic association; Allele; SNP; Minor allele frequency; Gene; Genotype; Internal medicine; Medicine; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001184989,0.0008452575,0.000738355,0.001723424,0.0009277032,0.0008841841,0.0007874367,0.001249008,0.003771769],"category_scores_gemma":[0.002871303,0.0006129377,0.001526371,0.001377048,0.0008226246,0.0003368534,0.0009147562,0.001235733,0.0003179914],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002948711,"about_ca_system_score_gemma":0.0003510674,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007443495,"about_ca_topic_score_gemma":0.005707874,"domain_scores_codex":[0.9990038,0.0002786703,0.0001121932,0.0003383962,0.0001427222,0.000124293],"domain_scores_gemma":[0.9983746,0.0007699827,0.0002913964,0.0002424215,0.0001190137,0.0002026284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01085171,0.0003999147,0.8570567,0.0001372215,0.004511603,0.004865367,0.0009173586,0.0003668044,0.108695,0.0006598756,0.0009192841,0.0106191],"study_design_scores_gemma":[0.0004321969,0.0003718871,0.9859642,0.00002585858,0.002301834,0.005299227,0.0003539087,0.0009790267,0.003102567,0.0003952599,0.0007371639,0.00003690122],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983233,0.0004023819,0.000524362,0.00011841,0.00002205462,0.000007445859,0.0002175219,0.00002281525,0.0003617935],"genre_scores_gemma":[0.9990733,0.0000845746,0.0003036507,0.00003146626,0.00001343243,0.00000653549,0.000128627,0.00001135636,0.0003468782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007443495,"threshold_uncertainty_score":0.01480031,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005789614267260837,"score_gpt":0.2635373128939681,"score_spread":0.2577476986267073,"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."}}