{"id":"W2125552495","doi":"10.1534/genetics.114.165225","title":"Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts","year":2014,"lang":"en","type":"article","venue":"Genetics","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of British Columbia; Institut Universitaire en Santé Mentale de Québec","funders":"National Institute of Dental and Craniofacial Research; National Institute of General Medical Sciences; National Human Genome Research Institute","keywords":"Genetics; Biology; Exome sequencing; Gene; Multiplex; Exome; DNA sequencing; Candidate gene; Computational biology; Mutation","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":[0.000308617,0.0001328486,0.000206531,0.00009145285,0.00003527936,0.00001378543,0.0001823687,0.0001368935,0.000003506324],"category_scores_gemma":[0.00012141,0.0001260708,0.00005353698,0.0001287499,0.00008755521,0.000003551926,0.0001090647,0.00007488605,0.00000173045],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002356774,"about_ca_system_score_gemma":0.00008006881,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000174941,"about_ca_topic_score_gemma":0.00232807,"domain_scores_codex":[0.9988796,0.00008954048,0.0002987883,0.0003061792,0.00009989698,0.0003259573],"domain_scores_gemma":[0.999459,0.00005480117,0.0000675385,0.0002915759,0.00006881299,0.00005823657],"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":[0.00007151473,0.0000287911,0.1412896,0.00006287402,0.00001401328,0.000001314877,0.0002850606,0.0009766055,0.8524863,0.00003778627,0.00004121445,0.004704983],"study_design_scores_gemma":[0.002568791,0.0005232625,0.4545077,0.00009277993,0.00001387755,0.000006702359,0.0008910265,0.01009555,0.5150746,0.001207106,0.01457414,0.0004445095],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977786,0.0005582145,0.001007927,0.00006539156,0.00004501992,0.0002997915,0.0001001636,0.000004121839,0.000140747],"genre_scores_gemma":[0.9968885,0.0006891464,0.002034458,0.0000213394,0.00005587378,0.00003395806,0.0001544955,0.0000218869,0.0001002946],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3374117,"threshold_uncertainty_score":0.5141018,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02736083275406397,"score_gpt":0.3024506521748925,"score_spread":0.2750898194208285,"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."}}