{"id":"W2071780913","doi":"10.1007/s00439-005-1325-9","title":"Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children","year":2005,"lang":"en","type":"article","venue":"Human Genetics","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":63,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; University of New Brunswick; Canada Research Chairs; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Genome Canada; Howard Hughes Medical Institute","keywords":"Biology; Genetics; Chromosomal inversion; Chromosome; 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":[],"consensus_categories":[],"category_scores_codex":[0.0001731042,0.000209458,0.0002708086,0.0002810386,0.0001123765,0.00004279491,0.0004590773,0.00008577933,0.00006366515],"category_scores_gemma":[0.00006461189,0.0001923443,0.00004768464,0.0007607123,0.0001870416,0.0001794575,0.0001745776,0.0002604728,0.0000478108],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000132248,"about_ca_system_score_gemma":0.00008511133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001255384,"about_ca_topic_score_gemma":0.0001976666,"domain_scores_codex":[0.9977987,0.0002209386,0.0003442811,0.0005007784,0.0007055101,0.0004298188],"domain_scores_gemma":[0.9991703,0.00006186964,0.0001391596,0.0004542698,0.00005732453,0.0001170709],"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":[0.0000669734,0.0006495528,0.3384828,0.00007126111,0.00002196269,0.0002998999,0.0007045403,0.002979172,0.6543395,0.0002544867,0.0003034339,0.001826447],"study_design_scores_gemma":[0.002056067,0.0006456344,0.9488773,0.000141754,0.00001577173,0.0003096659,0.00003289174,0.002761782,0.04472493,0.00008188522,0.00008785893,0.0002644602],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998777,0.0001006307,0.00004495684,0.00006111361,0.00003103082,0.0006558544,0.00003302014,0.00005221925,0.0002441201],"genre_scores_gemma":[0.9985008,0.00006210152,0.001011465,0.00009184549,0.00003318126,0.00002277362,0.00003774279,0.0000411222,0.0001989726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6103945,"threshold_uncertainty_score":0.7843574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04273275600323369,"score_gpt":0.2843999465422453,"score_spread":0.2416671905390116,"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."}}