{"id":"W2375961688","doi":"10.1038/ejhg.2016.45","title":"EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome","year":2016,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Bundesministerium für Bildung und Forschung","keywords":"Beckwith–Wiedemann syndrome; Imprinting (psychology); Guideline; Best practice; Genetic testing; Context (archaeology); Snapshot (computer storage); Genomic imprinting; Medicine; Psychology; Computer science; Genetics; Biology; Political science; Pathology; Gene; Law","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":[0.1150469,0.001494956,0.002778846,0.01050827,0.002426292,0.006321393,0.009901012,0.01597178,0.01036299],"category_scores_gemma":[0.2584122,0.001730152,0.005392137,0.006778105,0.00535438,0.004398544,0.005851361,0.0103889,0.0119562],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005953391,"about_ca_system_score_gemma":0.02645497,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0169298,"about_ca_topic_score_gemma":0.01608217,"domain_scores_codex":[0.8559184,0.06899097,0.04237293,0.003858688,0.02541295,0.003446051],"domain_scores_gemma":[0.6786427,0.1082229,0.02499063,0.01580046,0.1645802,0.007763073],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002679113,0.0003990393,0.003014091,0.006840877,0.0001878252,0.002189136,0.003159383,0.00178569,0.003111161,0.01931525,0.7421647,0.217565],"study_design_scores_gemma":[0.0001898473,0.0001541092,0.006232559,0.01750563,0.0001753931,0.002997915,0.001316743,0.001152238,0.001816764,0.01747794,0.9507957,0.0001852523],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.007614658,0.08360731,0.3025697,0.4235469,0.0373962,0.01774508,0.01143491,0.005811058,0.1102742],"genre_scores_gemma":[0.03158521,0.07297028,0.6740931,0.1174545,0.009151111,0.0252679,0.02106393,0.002178874,0.0462351],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.1150469,"threshold_uncertainty_score":0.6084337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05385079292430359,"score_gpt":0.3185356653326078,"score_spread":0.2646848724083042,"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."}}