{"id":"W4409341766","doi":"10.1002/ajmg.a.64085","title":"Whole Blood Multi‐<scp>OMIC</scp> Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in <scp><i>PLOD1</i></scp>‐Related Kyphoscoliotic Ehlers‐Danlos Syndrome","year":2025,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Ministero della Salute; Fondazione Telethon; Ministero dell’Istruzione, dell’Università e della Ricerca; Giovanni Armenise-Harvard Foundation","keywords":"Ehlers–Danlos syndrome; Joint hypermobility; Genetics; Biology; Exome sequencing; RNA splicing; Arachnodactyly; Hypotonia; Gene; Phenotype; Medicine; Pathology; Marfan syndrome; Anatomy; RNA; Internal medicine","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":[0.001197143,0.001075977,0.0006854097,0.003137571,0.0005965022,0.001511758,0.0004777216,0.001022591,0.002587906],"category_scores_gemma":[0.002875527,0.0002766971,0.0006139261,0.001327155,0.0004053863,0.0005298241,0.001064309,0.001038922,0.001118344],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002458261,"about_ca_system_score_gemma":0.0003632622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007977217,"about_ca_topic_score_gemma":0.001592793,"domain_scores_codex":[0.998852,0.000179929,0.0001954792,0.0003234552,0.0003526479,0.0000963469],"domain_scores_gemma":[0.9981229,0.0007617455,0.0003606261,0.0002503749,0.0003087907,0.000195603],"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":[0.001186747,0.0001234308,0.1502994,0.000753341,0.0003882941,0.02218929,0.0005297581,0.0005214964,0.6889573,0.0006930096,0.00405199,0.1303059],"study_design_scores_gemma":[0.0001093746,0.0004812911,0.5337594,0.0003989811,0.0006781666,0.06115298,0.0009531005,0.009914471,0.3285069,0.003763694,0.06014853,0.0001331207],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8962241,0.01051305,0.06800365,0.001675856,0.000490524,0.0002960182,0.01095197,0.002238526,0.009606208],"genre_scores_gemma":[0.9107066,0.003516041,0.07129189,0.001231024,0.0003890685,0.000213928,0.008830267,0.0007719029,0.003049225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003137571,"threshold_uncertainty_score":0.008657455,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01028754388589809,"score_gpt":0.3502235553123916,"score_spread":0.3399360114264935,"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."}}