{"id":"W1530807287","doi":"10.1155/2015/474097","title":"PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication","year":2015,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Shared Health; Winnipeg Regional Health Authority","funders":"","keywords":"Multiplex ligation-dependent probe amplification; Angelman syndrome; Genetics; Gene duplication; Genomic imprinting; Copy-number variation; Imprinting (psychology); Chromosome 15; Uniparental disomy; Biology; Medicine; Gene; Chromosome; DNA methylation; Genome; Karyotype","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":[0.0003568139,0.0001505065,0.0001820781,0.0000597778,0.00002212724,0.00001745585,0.00008505049,0.0001505791,0.00002137243],"category_scores_gemma":[0.0001194737,0.0001535695,0.00005994351,0.00009807586,0.00007684287,0.000001979635,0.000126826,0.00006839154,0.000007600871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002156392,"about_ca_system_score_gemma":0.0001786433,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002648244,"about_ca_topic_score_gemma":0.00003650606,"domain_scores_codex":[0.9986453,0.00003399283,0.0005526778,0.0003774843,0.000156425,0.0002340962],"domain_scores_gemma":[0.998765,0.000005252915,0.0002782254,0.0006340356,0.0001860988,0.0001313973],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001845276,0.0001356084,0.2567944,0.0000663873,0.00004995158,0.003349143,0.0002063911,0.001052636,0.7270859,0.00003655946,0.0007204118,0.01048416],"study_design_scores_gemma":[0.0005748335,0.0003886003,0.02171082,0.0000365628,0.00003174433,0.07968026,0.0002432397,0.0002132013,0.8396243,0.0002960136,0.05687012,0.0003302757],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957726,0.001529961,0.0004668212,0.00002627218,0.0003465939,0.0002002239,0.000004643136,0.000007366097,0.001645511],"genre_scores_gemma":[0.9958788,0.0001737415,0.003059632,0.00004265163,0.0001388171,0.00001341611,0.0000308111,0.00002624925,0.0006359109],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2350835,"threshold_uncertainty_score":0.626238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02316977405805489,"score_gpt":0.2889852929844233,"score_spread":0.2658155189263685,"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."}}