{"id":"W2152151438","doi":"10.1007/s40142-015-0078-6","title":"Current Tools for Interpretation of Genomic Copy Number Variants","year":2015,"lang":"en","type":"article","venue":"Current Genetic Medicine Reports","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Mount Sinai Hospital; University of Toronto","funders":"","keywords":"Copy-number variation; Clinical significance; Interpretation (philosophy); Computational biology; Bioinformatics; Medicine; Computer science; Biology; Genome; Genetics; Pathology; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003684699,0.0001645219,0.0002532349,0.00004180302,0.00003497186,0.00001382551,0.0001122676,0.00006408104,0.00005635256],"category_scores_gemma":[0.0003132718,0.0001427695,0.00008356711,0.00005347547,0.00009301345,0.000007068469,0.00006995451,0.00005579564,0.000006706816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003111266,"about_ca_system_score_gemma":0.0002808461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001237312,"about_ca_topic_score_gemma":0.000003331138,"domain_scores_codex":[0.9985692,0.00004507098,0.0006631757,0.000329812,0.000190401,0.0002023438],"domain_scores_gemma":[0.9986835,0.00002315496,0.0003855968,0.0003872673,0.0003739562,0.0001465423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007437962,0.0009278572,0.2841926,0.001473879,0.0005094121,0.00003135223,0.00459236,0.00195045,0.1731188,0.002039935,0.1147042,0.4157153],"study_design_scores_gemma":[0.004563622,0.001869473,0.07412316,0.0006105935,0.0005581852,0.001034421,0.001123991,0.001215345,0.0450275,0.006997506,0.8618225,0.001053666],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9314643,0.006982963,0.05707041,0.00008331707,0.003099293,0.0005108016,0.00002848998,0.00001024749,0.0007502497],"genre_scores_gemma":[0.9966207,0.0004404951,0.00150441,0.00002302725,0.0007735739,0.00008286109,0.0004217794,0.00001983156,0.0001133309],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7471183,"threshold_uncertainty_score":0.5821972,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03909439285021143,"score_gpt":0.3192956565474488,"score_spread":0.2802012636972374,"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."}}