{"id":"W4415482426","doi":"10.1038/s41431-026-02118-6","title":"Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort","year":2025,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal University Hospital","funders":"Department of Health and Social Care; Medical Research Council; University of Exeter; National Institute for Health and Care Research","keywords":"Penetrance; Exome sequencing; Population; Exome; Missense mutation; Allele; Osteogenesis imperfecta; Expressivity; 1000 Genomes Project","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":[0.0009030509,0.000476918,0.0005272268,0.0006646209,0.0008340405,0.00087676,0.000474049,0.0005231879,0.002669033],"category_scores_gemma":[0.002132494,0.0003017393,0.0006008241,0.0006478278,0.0004874569,0.0002183313,0.0007758393,0.0006488987,0.0005998588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002592443,"about_ca_system_score_gemma":0.0003252212,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004105203,"about_ca_topic_score_gemma":0.004467288,"domain_scores_codex":[0.9991742,0.0001182547,0.0000623677,0.0004730004,0.0001128155,0.00005928418],"domain_scores_gemma":[0.9993047,0.0001779013,0.0001837371,0.0001394921,0.00007767686,0.0001166101],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009474937,0.0001312616,0.9589095,0.0001510208,0.0006487643,0.004308989,0.001427085,0.0003183405,0.018729,0.0002279744,0.001840857,0.01235977],"study_design_scores_gemma":[0.00005496016,0.0003239514,0.9894897,0.00003854603,0.0002745451,0.005675042,0.0002844254,0.0004900151,0.0007704268,0.0001357319,0.00244319,0.00001940798],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971349,0.0002606283,0.0008634141,0.00003626458,0.000008443543,0.00003450925,0.00129676,0.00002026459,0.0003448815],"genre_scores_gemma":[0.9968046,0.0001709233,0.0006636059,0.00006734637,0.00001573982,0.00004587756,0.001873354,0.00002541421,0.0003331909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004105203,"threshold_uncertainty_score":0.008928835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009956654951366875,"score_gpt":0.2910529516879856,"score_spread":0.2810962967366187,"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."}}