{"id":"W3187441980","doi":"10.1038/s41467-021-24852-9","title":"Haploinsufficiency of SF3B2 causes craniofacial microsomia","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Hospital for Sick Children; SickKids Foundation; University of Toronto; Western University; Mount Sinai Hospital","funders":"National Institute of Dental and Craniofacial Research; National Human Genome Research Institute; National Institute on Deafness and Other Communication Disorders; Center for Mendelian Genomics, University of Washington; National Institutes of Health; Seattle Children's Research Institute; National Heart, Lung, and Blood Institute; University of Washington","keywords":"Treacher Collins syndrome; Microtia; Haploinsufficiency; Craniofacial; Neural crest; Hemifacial microsomia; Genetics; Biology; Hypoplasia; Exome sequencing; Craniofacial abnormality; Medicine; Anatomy; Mutation; Embryo","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":[0.00003599334,0.00008433723,0.0001014108,0.0000207219,0.0001463102,0.00001219228,0.0003650399,0.0001992519,0.00002266863],"category_scores_gemma":[0.0001231065,0.00008557591,0.00009370795,0.0001517428,0.0001173804,0.000002543299,0.0002450886,0.0001595943,0.000007173433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007283533,"about_ca_system_score_gemma":0.0001217007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002211833,"about_ca_topic_score_gemma":0.000485053,"domain_scores_codex":[0.9994771,0.00004741097,0.0001421442,0.0001555238,0.00007414244,0.0001036342],"domain_scores_gemma":[0.9986856,0.00001422189,0.00005547868,0.001014509,0.0001979459,0.00003226569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002327518,0.001079772,0.0470214,0.00001306771,0.0001308408,0.000002713432,0.0001628176,0.00000923637,0.9398363,0.006474174,0.003252556,0.001993814],"study_design_scores_gemma":[0.001805458,0.0001944025,0.1866729,0.00003189952,0.0001266401,0.00003121555,0.000522712,0.00002903101,0.2997613,0.0005322861,0.509838,0.0004541443],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9686568,0.01938147,0.000215606,0.001114213,0.000198398,0.0001542033,0.0002082195,0.00001735938,0.01005375],"genre_scores_gemma":[0.9949114,0.002084905,0.001993641,0.0002173833,0.00002396795,0.00001007708,0.0004095169,0.00001074903,0.0003384106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.640075,"threshold_uncertainty_score":0.3489684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01203345733913473,"score_gpt":0.2978012819351081,"score_spread":0.2857678245959733,"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."}}