{"id":"W4390107656","doi":"10.1002/ajmg.a.63522","title":"Long‐read genome sequencing reveals a novel intronic retroelement insertion in <scp><i>NR5A1</i></scp> associated with 46,<scp>XY</scp> differences of sexual development","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Génome Québec; Ontario Genomics Institute","keywords":"Biology; Genetics; Genome; DNA sequencing; Computational biology; Gene; Whole genome sequencing; Retrotransposon; Structural variation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001529558,0.0004308749,0.0002564012,0.0007212558,0.0003300137,0.0003397394,0.0003798563,0.001208825,0.001246063],"category_scores_gemma":[0.0006785189,0.000179946,0.0004286109,0.0003830474,0.0004141885,0.000142238,0.0003325913,0.000621346,0.00027459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002596435,"about_ca_system_score_gemma":0.000137294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001866298,"about_ca_topic_score_gemma":0.002060679,"domain_scores_codex":[0.9997591,0.00002313309,0.00002189136,0.00008663719,0.00006999185,0.0000392624],"domain_scores_gemma":[0.9994794,0.0002163618,0.000130643,0.00003109742,0.00002657195,0.0001160258],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003310556,0.0001372955,0.07379597,0.0001075338,0.00009001578,0.6138486,0.001073529,0.0007099377,0.2953862,0.0005375798,0.0005829764,0.01339942],"study_design_scores_gemma":[0.0000333883,0.0004446232,0.2141041,0.00003827312,0.0001128898,0.7148602,0.0003871974,0.003712981,0.06294567,0.0003538635,0.002968397,0.00003840086],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962094,0.0002468239,0.001939915,0.0002101602,0.00001780306,0.00002635086,0.0003193139,0.00007032025,0.0009598595],"genre_scores_gemma":[0.9974292,0.0001250599,0.001706273,0.0001198504,0.00001930789,0.000005830513,0.0001763821,0.00002239835,0.0003957256],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001866298,"threshold_uncertainty_score":0.00416851,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01961113129479088,"score_gpt":0.2448883623959628,"score_spread":0.2252772311011719,"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."}}