{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001154749,0.0002037591,0.000169382,0.00003589952,0.00006197367,0.00004312127,0.0001604044,0.0001970336,0.00000725871],"category_scores_gemma":[0.00002704286,0.0001492564,0.0001267128,0.00005677627,0.0001379092,0.000001161402,0.0005382713,0.0001482002,0.000003292446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006458684,"about_ca_system_score_gemma":0.00004424092,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000544262,"about_ca_topic_score_gemma":0.0001588069,"domain_scores_codex":[0.9991109,0.00005061887,0.0001954398,0.0003684258,0.0001348405,0.0001398267],"domain_scores_gemma":[0.9994709,0.000009494602,0.00009104149,0.000353235,0.00004255232,0.00003271393],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002148735,0.000440397,0.5837975,0.001108378,0.003978205,0.00002135697,0.001534765,0.000751114,0.3504669,0.0009222796,0.0005869848,0.05617728],"study_design_scores_gemma":[0.005939764,0.00183283,0.3583639,0.0006382224,0.004566554,0.00004283565,0.001612501,0.00414252,0.4920985,0.09259965,0.03470232,0.003460388],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9797093,0.01858429,0.0003806857,0.0002219861,0.0003578335,0.0002906984,0.00005108377,0.000009327048,0.0003947511],"genre_scores_gemma":[0.9968213,0.002432483,0.0002201682,0.00002944861,0.0001345539,0.00003117472,0.0001578156,0.00003409855,0.0001388989],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2254336,"threshold_uncertainty_score":0.6086501,"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."}}