{"id":"W1686085663","doi":"10.1038/ng753","title":"A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome","year":2001,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":350,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University Health Network; Canada Research Chairs; University of Toronto","funders":"Canadian Institutes of Health Research; University of Arizona; Yale University","keywords":"Biology; Genetics; Chromosomal inversion; Haploinsufficiency; Proband; Fluorescence in situ hybridization; Chromosome; Phenotype; Gene; Karyotype","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":[0.0002579045,0.0003348727,0.0003193413,0.0006171318,0.00016348,0.00007253832,0.000721224,0.0004922127,0.0001126143],"category_scores_gemma":[0.0003297733,0.0002777406,0.00007371059,0.002110693,0.0002985475,0.0001820769,0.0002354889,0.001321839,0.000213754],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001600395,"about_ca_system_score_gemma":0.0001553873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005064877,"about_ca_topic_score_gemma":0.0001063522,"domain_scores_codex":[0.9966685,0.0002192756,0.0002948444,0.0008310577,0.001163325,0.0008230238],"domain_scores_gemma":[0.9986228,0.0002092519,0.00008710213,0.0007351103,0.00008093857,0.0002647679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005433501,0.00111154,0.7116023,0.0002619335,0.00004698935,0.01630414,0.001266972,0.001809214,0.2396925,0.0003478351,0.0104752,0.0165381],"study_design_scores_gemma":[0.007933741,0.003150663,0.4597908,0.000828917,0.00007967719,0.009321922,0.0006757759,0.006987795,0.386125,0.001755573,0.1205585,0.002791618],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947608,0.001548916,0.00003533539,0.001527874,0.0002533124,0.0004988187,0.00002565529,0.0001183977,0.001230926],"genre_scores_gemma":[0.9945021,0.001518178,0.0009393049,0.001084489,0.00006414577,0.00002636415,0.000009814031,0.0000675624,0.001788063],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2518114,"threshold_uncertainty_score":0.9999675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02126986796144197,"score_gpt":0.2679939696801198,"score_spread":0.2467241017186778,"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."}}