{"id":"W2910196216","doi":"10.1038/s41431-018-0326-9","title":"Duplication of 10q24 locus: broadening the clinical and radiological spectrum","year":2019,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal","funders":"Narodowe Centrum Badań i Rozwoju","keywords":"Gene duplication; Genetics; Penetrance; Biology; Ectrodactyly; Locus (genetics); Genetic heterogeneity; Phenotype; Gene; Ectodermal dysplasia","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":[0.0004311245,0.00131811,0.0009764777,0.002744774,0.0004131335,0.0005411921,0.0008770094,0.001490071,0.004251881],"category_scores_gemma":[0.003002207,0.0004283066,0.0004571455,0.001564619,0.001412342,0.0005724704,0.001179432,0.0006547699,0.0006918448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003528829,"about_ca_system_score_gemma":0.0005068704,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001420787,"about_ca_topic_score_gemma":0.00153518,"domain_scores_codex":[0.9994211,0.0000919099,0.00006217429,0.0002014001,0.0001023122,0.0001210991],"domain_scores_gemma":[0.9988109,0.0004706613,0.0002614637,0.0001240562,0.0001278112,0.0002051288],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0009951885,0.0001391494,0.1538197,0.0002851483,0.0001725548,0.6999433,0.0008801469,0.00143044,0.09863909,0.00260653,0.002041741,0.03904707],"study_design_scores_gemma":[0.00009033686,0.0001779216,0.1804171,0.00007712977,0.0001642179,0.8068529,0.000401912,0.0007717455,0.005109994,0.001962058,0.003922829,0.00005178879],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856188,0.002881208,0.00294589,0.001160435,0.0000618249,0.00004099409,0.0005393971,0.0001295362,0.006621893],"genre_scores_gemma":[0.9968591,0.0009024604,0.001046777,0.0001402437,0.0001132456,0.00001046843,0.00015478,0.00002416681,0.0007487594],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004251881,"threshold_uncertainty_score":0.01422393,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0194982579815771,"score_gpt":0.2642746010414586,"score_spread":0.2447763430598815,"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."}}