{"id":"W2046556071","doi":"10.1038/ejhg.2011.71","title":"Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":false,"ca_institutions":"Victoria General Hospital; Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Phenotype; Genetics; Gene; Biology; Comparative genomic hybridization; Karyotype; Medicine; Bioinformatics; Chromosome","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":[0.0003272649,0.001199172,0.0008587496,0.001501422,0.001075049,0.0006751653,0.0006701736,0.0009829594,0.002939309],"category_scores_gemma":[0.003214456,0.0006510712,0.0004542921,0.001329471,0.001414425,0.0004364727,0.0008773843,0.0006990739,0.0004650098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003297262,"about_ca_system_score_gemma":0.0003212503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001723737,"about_ca_topic_score_gemma":0.001031313,"domain_scores_codex":[0.9994472,0.00007705772,0.00009172438,0.0001766938,0.0000784053,0.0001289403],"domain_scores_gemma":[0.9976014,0.001075663,0.0004503418,0.0001634571,0.0001361807,0.0005729389],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001638305,0.0003217105,0.5710826,0.00007175094,0.00008197294,0.3933221,0.003717782,0.0004441875,0.02046244,0.0004349434,0.000342081,0.008080172],"study_design_scores_gemma":[0.0001007518,0.0007998614,0.4485522,0.00001282915,0.0001138739,0.5443702,0.001644166,0.0004171028,0.002601612,0.0002540836,0.001072765,0.00006060229],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987671,0.00008793324,0.0002249016,0.00005135155,0.000007728358,0.00001342803,0.0001071133,0.000009511754,0.0007308564],"genre_scores_gemma":[0.9993069,0.00004342635,0.0001890517,0.00003085563,0.00001584596,0.000009307127,0.000137631,0.000007899375,0.0002590448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002939309,"threshold_uncertainty_score":0.009832978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02068822077690841,"score_gpt":0.2290746111507135,"score_spread":0.2083863903738051,"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."}}