{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004692319,0.0001720495,0.000205367,0.00004974527,0.0001456621,0.00009376041,0.0001467345,0.0004800827,0.000009778174],"category_scores_gemma":[0.0002573727,0.0001456871,0.00002920885,0.0001012933,0.00009889597,0.000005141938,0.0001590652,0.0006136933,0.000001673511],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007040596,"about_ca_system_score_gemma":0.00006144835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004411044,"about_ca_topic_score_gemma":0.001049826,"domain_scores_codex":[0.9987256,0.0001002845,0.0002074631,0.0003961375,0.000309073,0.0002614643],"domain_scores_gemma":[0.9990662,0.00005108021,0.0001780491,0.0003636424,0.0002228526,0.0001181612],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000761227,0.00008942193,0.9357904,0.00002482645,0.0001537751,0.000002159526,0.0003440382,0.00001473033,0.06293508,9.314965e-7,0.00007357223,0.0004950081],"study_design_scores_gemma":[0.001135147,0.0004964564,0.9919114,0.00000756821,0.00008939137,0.000007361742,0.0001620876,0.00008809933,0.003002798,0.00005056772,0.002872234,0.0001768592],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988779,0.0003051937,0.00001958973,0.00006801373,0.0001371649,0.0003734321,0.00003897679,0.000008102546,0.0001715701],"genre_scores_gemma":[0.9973218,0.001405874,0.0006073054,0.00005431421,0.0001656226,0.000006710138,0.00002965078,0.00002893351,0.0003797246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05993228,"threshold_uncertainty_score":0.5940949,"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."}}