{"id":"W2128199216","doi":"10.1186/1755-8166-1-23","title":"Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH","year":2008,"lang":"en","type":"article","venue":"Molecular Cytogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Victoria General Hospital; Centre Hospitalier Universitaire Sainte-Justine; Queen's University; Children's Hospital Research Institute of Manitoba; Credit Valley Hospital; University of British Columbia Hospital; Children's Hospital of Eastern Ontario; University of Calgary; Grace (Canada); Child and Family Research Institute","funders":"Institute of Genetics; Michael Smith Health Research BC; Canadian Institutes of Health Research; Autism Speaks","keywords":"Comparative genomic hybridization; Genetics; Karyotype; Biology; Breakpoint; Chromosome; Gene duplication; Human genetics; Cytogenetics; Intellectual disability; Copy-number variation; Hypotonia; Gene; Genome","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":[0.0003489316,0.0008585443,0.0003621111,0.001801725,0.0005014569,0.0003916617,0.0003232432,0.000578646,0.001527148],"category_scores_gemma":[0.0009698757,0.0002400125,0.0002174996,0.0006397786,0.0003965017,0.0001639567,0.0003314258,0.0003470069,0.0002511066],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000265314,"about_ca_system_score_gemma":0.0002635085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003887629,"about_ca_topic_score_gemma":0.003978423,"domain_scores_codex":[0.9997324,0.0000326298,0.00002890498,0.0001023184,0.00006163902,0.00004207105],"domain_scores_gemma":[0.9997433,0.0001040469,0.00005734224,0.00002453609,0.00002735471,0.00004335364],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007196214,0.000163919,0.5797935,0.0001550622,0.0001231638,0.101481,0.004290617,0.0008184502,0.288896,0.0002987315,0.0006041971,0.02265583],"study_design_scores_gemma":[0.00003804099,0.0003810946,0.8674048,0.00003614256,0.0001390868,0.1058649,0.0009675366,0.0008205775,0.02134883,0.0001362827,0.002833094,0.00002970317],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988256,0.000300857,0.000301795,0.00004052952,0.000004572229,0.00001446701,0.000101423,0.00002461264,0.0003862159],"genre_scores_gemma":[0.9986067,0.0001875812,0.0007292291,0.00003014402,0.00001202354,0.000009793239,0.0001336977,0.000009587513,0.0002811462],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003887629,"threshold_uncertainty_score":0.007730007,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01236509327761408,"score_gpt":0.2310474565691961,"score_spread":0.218682363291582,"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."}}