{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009498731,0.0001462696,0.0003445222,0.0001655189,0.00004267545,0.0000121037,0.0007553549,0.0002532221,0.0003190128],"category_scores_gemma":[0.003117196,0.0001299641,0.0001898777,0.0003470275,0.0005514505,0.00000221482,0.0003514126,0.0003178609,0.00002947865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001637974,"about_ca_system_score_gemma":0.0004481317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001009511,"about_ca_topic_score_gemma":0.00002804225,"domain_scores_codex":[0.9971631,0.0001951196,0.0006437977,0.0002031178,0.001440044,0.0003548671],"domain_scores_gemma":[0.9984415,0.0001923278,0.0002214146,0.0003112539,0.0004351499,0.0003983897],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009084967,0.00204365,0.2733286,0.0008395032,0.001591739,0.004469979,0.0006497607,0.001886542,0.5412893,0.0008320441,0.06577783,0.1063825],"study_design_scores_gemma":[0.004801244,0.004557949,0.903506,0.00034876,0.0001498987,0.00145303,0.0005818671,0.003662413,0.05266753,0.003176369,0.02451346,0.0005815204],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909578,0.002858205,0.003863284,0.001781549,0.0002364964,0.000142462,0.00001653131,0.000006504509,0.0001371473],"genre_scores_gemma":[0.9939133,0.004179225,0.001390363,0.0001346382,0.0002457558,0.00000384542,0.00001311742,0.00002785604,0.00009188632],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6301774,"threshold_uncertainty_score":0.5299782,"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."}}