{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004666448,0.0004229991,0.0003002348,0.001034512,0.0006434013,0.0003894531,0.0001995329,0.0002879562,0.002251466],"category_scores_gemma":[0.001856426,0.0002021065,0.0002838961,0.0006383604,0.0003704299,0.0001986727,0.0004302984,0.0002284927,0.0001835289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002114254,"about_ca_system_score_gemma":0.0000989488,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001731854,"about_ca_topic_score_gemma":0.002595722,"domain_scores_codex":[0.9996062,0.00006588989,0.00004920972,0.0001536213,0.00008472292,0.00004033065],"domain_scores_gemma":[0.9995022,0.000214187,0.0001219907,0.00006733211,0.00002590439,0.00006840372],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001410945,0.0001596307,0.7699572,0.0001011513,0.0004159642,0.02462898,0.002719412,0.001445606,0.1584398,0.0007078334,0.0004032876,0.03961004],"study_design_scores_gemma":[0.000033853,0.0003027125,0.9413744,0.00003101725,0.000238503,0.03448559,0.0007906327,0.00177588,0.01898503,0.0006416921,0.001315982,0.00002466974],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992908,0.00006842775,0.0004044548,0.000008461759,0.000001436377,0.000003052081,0.00006742665,0.000005260478,0.0001506517],"genre_scores_gemma":[0.9992779,0.00006673456,0.0003742939,0.000009352356,0.000002643343,0.000002414918,0.00006057158,0.000002878451,0.0002032206],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002251466,"threshold_uncertainty_score":0.007531941,"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."}}