{"id":"W3131086367","doi":"10.1016/j.gde.2021.01.013","title":"7q11.23 deletion and duplication","year":2021,"lang":"en","type":"review","venue":"Current Opinion in Genetics & Development","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Biology; Copy-number variation; Phenotype; Gene duplication; Genetics; Transcriptome; Gene; Cognition; Computational biology; Genome; Neuroscience; Gene expression","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000470182,0.0004200744,0.0008232004,0.0004835772,0.0001303364,0.00013655,0.0004506322,0.0002325111,0.00004163279],"category_scores_gemma":[0.0002846975,0.0004114435,0.0001007953,0.0008869828,0.00009193537,0.00005672775,0.0005763169,0.0005696747,0.0002797187],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004476097,"about_ca_system_score_gemma":0.001083735,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":7.828288e-7,"about_ca_topic_score_gemma":7.987143e-7,"domain_scores_codex":[0.996352,0.0004107074,0.0009403371,0.001087922,0.0007064506,0.0005026293],"domain_scores_gemma":[0.998754,0.0002393406,0.000265274,0.0004819561,0.00008113556,0.0001783152],"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":[5.909137e-7,0.00009167823,0.0000376315,0.008589434,0.000005948921,0.000001758538,0.00008564692,0.000001661699,0.00001063582,0.0002596969,0.0005526581,0.9903626],"study_design_scores_gemma":[0.0001400174,0.00001572322,0.0002129887,0.01278373,0.00001280929,0.0000612958,0.00000421344,0.00003194001,0.0001244826,0.00004366303,0.9861574,0.0004116955],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00009431162,0.9958965,0.0003206955,0.00003720456,0.002394944,0.001141802,0.00001393303,0.00003501273,0.00006562268],"genre_scores_gemma":[0.00001959451,0.9978468,0.0009778128,0.000005639359,0.0001521192,0.0005680852,0.0002971071,0.0000566501,0.00007612296],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.989951,"threshold_uncertainty_score":0.9998338,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2520017213148249,"score_gpt":0.4471939145937119,"score_spread":0.195192193278887,"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."}}