{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004316262,0.0002671382,0.0002958479,0.001465491,0.0002992056,0.0002144178,0.0002684168,0.0002532771,0.0008100638],"category_scores_gemma":[0.001959521,0.000111407,0.0001670677,0.0005629395,0.0003152848,0.0001198795,0.0004735243,0.0001742748,0.0001881125],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001201074,"about_ca_system_score_gemma":0.0003154197,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001280864,"about_ca_topic_score_gemma":0.001564069,"domain_scores_codex":[0.9993657,0.0001334868,0.00008491638,0.0002171269,0.00014796,0.00005075736],"domain_scores_gemma":[0.9992601,0.0002266431,0.0001679374,0.000144205,0.0001285157,0.00007246865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003191931,0.000068975,0.8416283,0.0001333126,0.0001052858,0.004347487,0.0005950927,0.0004178522,0.1165919,0.0002092401,0.0003860566,0.03519735],"study_design_scores_gemma":[0.00002465338,0.0002295038,0.9627213,0.00002963319,0.00007624719,0.02141021,0.0001608716,0.0003840513,0.01297346,0.00009815294,0.001881797,0.000009936956],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976101,0.0003827612,0.0008950051,0.00002614905,0.000003433124,0.00002561883,0.0004991945,0.00001837313,0.000539383],"genre_scores_gemma":[0.9966247,0.0001889577,0.002046565,0.00005215785,0.000005819546,0.00002720751,0.0008716522,0.00002025897,0.0001626528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001465491,"threshold_uncertainty_score":0.002709925,"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."}}