{"id":"W4283735939","doi":"10.1136/jmedgenet-2021-108288","title":"A 132 bp deletion affecting the <i>KCNQ1OT1</i> gene associated with Silver-Russell syndrome clinical phenotype","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Nova Scotia Health Authority; Izaak Walton Killam Health Centre; Vitalité Health Network; Atlantic Cancer Research Institute; Université de Moncton","funders":"Fondation de la recherche en santé du Nouveau-Brunswick","keywords":"Genomic imprinting; Genetics; Proband; Biology; Phenotype; Gene; Imprinting (psychology); Copy-number variation; Epigenetics; X-inactivation; X chromosome; DNA methylation; Mutation; Gene expression; Genome","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009826147,0.00100681,0.0004282313,0.00067706,0.0003075715,0.0001882944,0.0003949583,0.0007289032,0.002188961],"category_scores_gemma":[0.0007861306,0.000258156,0.0001592483,0.0005198692,0.0005809728,0.0002308983,0.000457249,0.0004459885,0.0004193138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001994688,"about_ca_system_score_gemma":0.0002054006,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009423133,"about_ca_topic_score_gemma":0.0008985847,"domain_scores_codex":[0.9998344,0.00001895647,0.00001856045,0.000061062,0.00003402017,0.00003293976],"domain_scores_gemma":[0.9994218,0.000176947,0.0001936703,0.00002150385,0.0000301058,0.0001559252],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000563223,0.0001030419,0.06067026,0.0001887065,0.00005245914,0.7588177,0.000648476,0.0004642179,0.1687655,0.0003378247,0.0008717655,0.008516796],"study_design_scores_gemma":[0.00003992877,0.0003021203,0.1115002,0.00001871854,0.00006093389,0.8719708,0.0001122853,0.0003417291,0.01423207,0.0001597896,0.001233387,0.00002790102],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976243,0.0002297142,0.0006419984,0.00009145699,0.00001315874,0.00001510471,0.0001402749,0.00004593583,0.001197957],"genre_scores_gemma":[0.998736,0.00008871773,0.0005502511,0.00004273069,0.00001890791,0.000007494048,0.0001200815,0.00001243378,0.0004235395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002188961,"threshold_uncertainty_score":0.007322788,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01752178852439612,"score_gpt":0.2809629543558431,"score_spread":0.263441165831447,"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."}}