{"id":"W4393189795","doi":"10.1101/2024.03.22.24304594","title":"Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institute of Mental Health; Medical Research Council; Silicon Valley Community Foundation; Fonds de Recherche du Québec - Santé; Manton Center for Orphan Disease Research, Boston Children's Hospital; National Health and Medical Research Council; Broad Institute","keywords":"Genetics; Phenocopy; Phenotype; Biology; Pedigree chart; Proband; Mendelian inheritance; Gene; Genetic heterogeneity; Exome sequencing; Candidate gene; Medical genetics; Genome-wide association study; Exome; Allelic heterogeneity; Single-nucleotide polymorphism; Mutation; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007481338,0.0009097587,0.0005060582,0.003114877,0.0004653131,0.0008186669,0.0004685884,0.0005036583,0.00229406],"category_scores_gemma":[0.001972178,0.0002036319,0.0003763755,0.001540591,0.0007958217,0.0004677648,0.001288355,0.0004372579,0.0002316104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003454771,"about_ca_system_score_gemma":0.000740873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004635618,"about_ca_topic_score_gemma":0.003609995,"domain_scores_codex":[0.9991399,0.0001818945,0.00009431991,0.000253204,0.0002049525,0.000125645],"domain_scores_gemma":[0.998823,0.0005074845,0.0003205128,0.00009813785,0.000134564,0.0001163355],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003423247,0.00006495324,0.9302925,0.0001316242,0.0001254088,0.007060441,0.0004221906,0.001148665,0.02496384,0.0008216423,0.0003372419,0.03428912],"study_design_scores_gemma":[0.00002704937,0.0001100454,0.9603217,0.00008980089,0.0001433418,0.02805312,0.0005122423,0.002053861,0.005104039,0.001225481,0.002335988,0.0000232798],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957897,0.00139366,0.001263955,0.0001005208,0.000007275974,0.00001729755,0.0003661117,0.00001624983,0.001045268],"genre_scores_gemma":[0.9965318,0.0009168042,0.001971337,0.00005190142,0.00001886616,0.000009106946,0.0003469226,0.00001157311,0.0001416662],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004635618,"threshold_uncertainty_score":0.009217322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008464982745961984,"score_gpt":0.2494219106615591,"score_spread":0.2409569279155971,"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."}}