{"id":"W4410488650","doi":"10.1016/j.gimo.2025.103437","title":"Systematic phenotype and genotype characterization of Moebius syndrome","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Pectus Deformity Diagnosis and Treatment","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"National Institute of Child Health and Human Development; Icahn School of Medicine at Mount Sinai; National Institute on Deafness and Other Communication Disorders; National Eye Institute; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institutes of Health; National Heart, Lung, and Blood Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Boston Children's Hospital; Harvard University; National Institute of General Medical Sciences; Harvard Medical School; Harvard Catalyst; Howard Hughes Medical Institute","keywords":"Genetics; Exome sequencing; Biology; Phenotype; Candidate gene; Gene; Exome; Bioinformatics","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":[0.0002895638,0.0001084697,0.000613287,0.0001727241,0.00002231006,0.000009777581,0.0001286395,0.00005760276,0.0000556243],"category_scores_gemma":[0.0001371205,0.00007766217,0.00001797246,0.0002719328,0.00006857497,0.00002779492,0.0001272795,0.00006655473,0.000005551448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005832685,"about_ca_system_score_gemma":0.00006955038,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001744512,"about_ca_topic_score_gemma":0.00003998448,"domain_scores_codex":[0.9990764,0.00003978222,0.0004328087,0.0001818761,0.0001491569,0.0001200213],"domain_scores_gemma":[0.9994181,0.00005439342,0.0001052174,0.0002988538,0.00006969213,0.00005373377],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007294046,0.002369492,0.7874823,0.08384047,0.001889257,0.0006298684,0.004994306,0.00002899288,0.07227223,0.01197734,0.0005453564,0.03324098],"study_design_scores_gemma":[0.003035797,0.0006891635,0.9798327,0.01301738,0.0004386471,0.00006201899,0.0001655399,0.0003498788,0.001557278,0.0005954768,0.0001676144,0.00008851854],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9894592,0.002723735,0.0001166387,0.001153499,0.0001292599,0.001513112,0.000004511186,0.000007129874,0.004892966],"genre_scores_gemma":[0.9970219,0.001302266,0.0004314803,0.0004396255,0.00001610775,0.0000594611,0.00003834051,0.000008919858,0.0006819213],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1923504,"threshold_uncertainty_score":0.3166971,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02061162256522807,"score_gpt":0.3175961361354014,"score_spread":0.2969845135701733,"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."}}