{"id":"W2051590482","doi":"10.1002/ajmg.a.34272","title":"Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature","year":2012,"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":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Tetrasomy; Isochromosome; Karyotype; Trigonocephaly; Biology; Chromosome; Genetics; Pathology; Medicine; Craniosynostosis","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":[0.0003273486,0.00121812,0.001440374,0.006513628,0.0006755486,0.001213719,0.001726965,0.001785806,0.002736825],"category_scores_gemma":[0.001019638,0.0004063575,0.0005663006,0.004566625,0.001021014,0.001656656,0.0008688461,0.0008953413,0.001618242],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004179595,"about_ca_system_score_gemma":0.0006040262,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007189647,"about_ca_topic_score_gemma":0.001211073,"domain_scores_codex":[0.999499,0.00004553845,0.0001651107,0.0001318684,0.00008150392,0.00007693651],"domain_scores_gemma":[0.9990094,0.0003441345,0.0003248962,0.00005531256,0.0001029547,0.0001632256],"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":[0.0001095181,0.0001796656,0.0157345,0.007887853,0.0002213865,0.8208272,0.0007898716,0.000452628,0.005013932,0.0006450188,0.01304607,0.1350923],"study_design_scores_gemma":[0.000009164595,0.00007280191,0.007100269,0.0008268586,0.0001719825,0.9589155,0.0004118574,0.0001637076,0.0006286936,0.0004150761,0.03124534,0.00003876619],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.1077035,0.8735249,0.004605141,0.001678596,0.001857672,0.0001684555,0.0005189395,0.0003461777,0.00959661],"genre_scores_gemma":[0.2713861,0.7109005,0.005381114,0.00226141,0.005360994,0.0001067661,0.001094265,0.0000720674,0.003436749],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.006513628,"threshold_uncertainty_score":0.009155631,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008846816614781714,"score_gpt":0.279951781250626,"score_spread":0.2711049646358443,"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."}}