{"id":"W4398238036","doi":"10.1002/ajmg.a.63720","title":"Exploring the diverse clinical and variant spectrum of <scp>CEP78</scp>‐associated syndrome: Novel pathogenic variants identified in a case series","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kensington Health; University Health Network; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Genetic testing; Exome sequencing; Genetics; Hearing loss; Sibling; Dystrophy; Medicine; Phenotype; Biology; Bioinformatics; Gene; Audiology; Psychology","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":[0.001915549,0.0001502747,0.0003502496,0.00009594447,0.00004908039,0.00004291934,0.0002790579,0.00009378915,0.00001266297],"category_scores_gemma":[0.0009117129,0.0001092678,0.0001464551,0.0003179474,0.0007158875,0.00001225421,0.0002001701,0.0003404939,0.000001913608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001063724,"about_ca_system_score_gemma":0.0003494669,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003120485,"about_ca_topic_score_gemma":0.00009244196,"domain_scores_codex":[0.997999,0.0002082628,0.0007899189,0.0002393134,0.0005026582,0.0002608655],"domain_scores_gemma":[0.9991067,0.0001822951,0.0002647615,0.0001604007,0.00006486642,0.0002209492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001098251,0.003052454,0.6311447,0.0004803782,0.006632467,0.09645865,0.01295021,0.0003305003,0.07105459,0.001635775,0.008475217,0.1666868],"study_design_scores_gemma":[0.004188556,0.00546777,0.899668,0.0009104992,0.0004926869,0.05310833,0.01531351,0.0009050024,0.001646477,0.0005648708,0.01727383,0.0004604873],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965752,0.001518016,0.0005519956,0.0005681854,0.0006460713,0.00009018161,0.00001305014,0.000003716832,0.00003353431],"genre_scores_gemma":[0.9911115,0.008243431,0.0003316895,0.0001058598,0.0001028781,0.000005345301,0.000005665293,0.00001762971,0.00007601778],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2685233,"threshold_uncertainty_score":0.4455811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04054727203998326,"score_gpt":0.2951929863894066,"score_spread":0.2546457143494233,"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."}}