{"id":"W4387461103","doi":"10.1136/jmg-2023-109329","title":"Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"Research England; Medical Research Council; NIHR BioResource; National Institute for Health and Care Research; Department of Health and Social Care; Wellcome Trust; NHS Blood and Transplant","keywords":"Genome-wide association study; Exome sequencing; Ehlers–Danlos syndrome; Genetics; Genetic association; Exome; Candidate gene; Minor allele frequency; Mendelian inheritance; Genetic heterogeneity; Biology; Medicine; Allele; Bioinformatics; Gene; Allele frequency; Single-nucleotide polymorphism; Genotype; Pathology; Phenotype","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":[0.0009506897,0.0008024971,0.0006994212,0.003978272,0.000878319,0.00130519,0.001105138,0.001206455,0.00290563],"category_scores_gemma":[0.007340272,0.0002961087,0.0003460422,0.002718993,0.001189181,0.0007083481,0.001504268,0.0006400842,0.0002948497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005884896,"about_ca_system_score_gemma":0.0005718793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001594573,"about_ca_topic_score_gemma":0.001343873,"domain_scores_codex":[0.9987916,0.0002726226,0.0001743898,0.0003510543,0.0002694112,0.0001408524],"domain_scores_gemma":[0.9974947,0.001205969,0.0007961434,0.00009334693,0.0001863249,0.0002235178],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001606558,0.0001635901,0.8587856,0.0003251669,0.0004195023,0.07358676,0.003134439,0.001553177,0.02512173,0.004912785,0.001619814,0.02877088],"study_design_scores_gemma":[0.0001282698,0.0002096962,0.8489251,0.0001772928,0.0003959373,0.1307169,0.002833152,0.001865758,0.002293002,0.009871336,0.00251762,0.00006596771],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973083,0.0007613905,0.0002696393,0.0003704732,0.00001067617,0.00001117341,0.0002203523,0.0000104966,0.001037592],"genre_scores_gemma":[0.9983272,0.0003488813,0.000721595,0.00009067334,0.00004413674,0.000008410736,0.0003606133,0.000007989255,0.00009060963],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003978272,"threshold_uncertainty_score":0.009720325,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05784632928074168,"score_gpt":0.3544491990560555,"score_spread":0.2966028697753139,"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."}}