{"id":"W2036548122","doi":"10.1159/000184693","title":"Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting","year":2008,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; University of Toronto; Hospital for Sick Children","funders":"Ontario Ministry of Research and Innovation; Sickkids Research Institute; University of Toronto; GlaxoSmithKline; National Alliance for Research on Schizophrenia and Depression; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Hospital for Sick Children; Wellcome Trust; Ontario Genomics Institute; Canadian Institute for Advanced Research","keywords":"Copy-number variation; Biology; Genetics; Genome; Segmental duplication; Gene duplication; SNP array; Phenotype; Gene dosage; Single-nucleotide polymorphism; Gene; Evolutionary biology; Computational biology; Gene family; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.00597681,0.001202537,0.001216005,0.006011432,0.0008527267,0.001264648,0.002602573,0.001980378,0.001904254],"category_scores_gemma":[0.01526351,0.0005633018,0.0005493464,0.001801988,0.001851584,0.000989328,0.001236233,0.0009761713,0.001162371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004709494,"about_ca_system_score_gemma":0.0006052119,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002569659,"about_ca_topic_score_gemma":0.004240858,"domain_scores_codex":[0.9928297,0.002430223,0.003005803,0.0005237365,0.000967356,0.0002431845],"domain_scores_gemma":[0.9926764,0.003486322,0.001062957,0.001040187,0.001317254,0.0004168836],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008827252,0.0006796329,0.3061001,0.001960812,0.0001882868,0.2769041,0.005884964,0.002906712,0.1101399,0.01234291,0.04442897,0.237581],"study_design_scores_gemma":[0.0001756896,0.0006249206,0.2049639,0.001861403,0.0002971301,0.6266619,0.002575111,0.006781133,0.04274967,0.005924396,0.1071711,0.0002137835],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5998174,0.03989505,0.2688532,0.0182792,0.0008631062,0.01438831,0.004049033,0.003256117,0.05059859],"genre_scores_gemma":[0.6451954,0.01748715,0.3111659,0.00240897,0.0006987713,0.008810653,0.004770979,0.0006290379,0.00883323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9940232,"threshold_uncertainty_score":0.03160876,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1450146871682504,"score_gpt":0.4146991995480692,"score_spread":0.2696845123798188,"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."}}