{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007807984,0.00008492992,0.0001406229,0.00003759002,0.0001993,0.0000192486,0.00003801709,0.0001002333,0.000002952953],"category_scores_gemma":[0.0003494033,0.00007702124,0.00002386991,0.00006305857,0.0002001869,0.00000511387,0.00006863202,0.00005012876,2.504074e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008531173,"about_ca_system_score_gemma":0.0001375452,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000113043,"about_ca_topic_score_gemma":0.00002229027,"domain_scores_codex":[0.9989035,0.00008141975,0.0004647289,0.0002905556,0.00008754704,0.0001722135],"domain_scores_gemma":[0.998969,0.00004204291,0.0001964615,0.0001599387,0.00055558,0.0000770277],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001340903,0.00003444149,0.1014958,0.0000576895,0.0000474004,0.00005784933,0.0002210965,0.00001344911,0.8966514,0.00007114467,0.000008735527,0.001206868],"study_design_scores_gemma":[0.002412142,0.001788137,0.6316786,0.00004347995,0.000119598,0.0232915,0.0007073362,0.0005602758,0.3360068,0.0001823166,0.002765596,0.0004443057],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912091,0.0004282517,0.007811484,0.0001386904,0.00001127836,0.0003214753,0.00005728619,0.000002994704,0.00001937317],"genre_scores_gemma":[0.9929672,0.001364875,0.005190015,0.00004896364,0.0001327927,0.00003544174,0.0001292379,0.00001363005,0.0001178801],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5606447,"threshold_uncertainty_score":0.3140835,"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."}}