{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001458131,0.0003159802,0.0002051391,0.0009569511,0.0001662906,0.0001542964,0.0001825749,0.0003177668,0.001975592],"category_scores_gemma":[0.0004179617,0.0001428524,0.0001755647,0.0001827118,0.0002840534,0.000120822,0.0002604863,0.0003882019,0.0004121255],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001809259,"about_ca_system_score_gemma":0.0001208901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001606591,"about_ca_topic_score_gemma":0.002134128,"domain_scores_codex":[0.9997857,0.00001902874,0.00001871021,0.00007881487,0.00004998925,0.00004785363],"domain_scores_gemma":[0.9998462,0.00004633355,0.00002845428,0.0000139826,0.00002506569,0.00003997201],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0001838482,0.00002916604,0.04457896,0.00006248055,0.00002096298,0.0318871,0.0002808759,0.0001096698,0.9150905,0.0002163563,0.000263781,0.007276398],"study_design_scores_gemma":[0.00002598534,0.0006381742,0.292556,0.00002109203,0.00009259753,0.154094,0.0002839254,0.003262927,0.5425131,0.0003114066,0.006177594,0.00002314093],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912985,0.0006685723,0.005511469,0.0001805603,0.00002897714,0.00001871161,0.0002843181,0.0001577113,0.001851331],"genre_scores_gemma":[0.996938,0.0002511228,0.001665188,0.00004289518,0.00001270549,0.000006775776,0.0001750276,0.00001205425,0.0008963503],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001975592,"threshold_uncertainty_score":0.006609023,"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."}}