{"id":"W3007654857","doi":"10.1016/j.ajhg.2020.02.001","title":"De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders","year":2020,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Schweizerische Akademie der Medizinischen Wissenschaften; Krebsliga Schweiz; Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Missense mutation; Exome sequencing; Macrocephaly; Biology; Microcephaly; Genetics; Craniofacial; Loss function; Intellectual disability; Endometrial cancer; Hypertelorism; Congenital hypothyroidism; Medical genetics; Cancer; Mutation; Gene; Phenotype","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":[0.0003724628,0.004363594,0.0009004188,0.002182407,0.001177283,0.001177328,0.001233566,0.00408137,0.004113991],"category_scores_gemma":[0.002618333,0.0006572451,0.001020109,0.001229602,0.002347305,0.0006456289,0.002265386,0.001595211,0.0009073768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007097854,"about_ca_system_score_gemma":0.0006167103,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001675216,"about_ca_topic_score_gemma":0.00175841,"domain_scores_codex":[0.9991666,0.00007960961,0.00009690942,0.0002881181,0.0001578089,0.0002108528],"domain_scores_gemma":[0.9982035,0.0005438215,0.0005739789,0.00008640139,0.00009649799,0.0004957012],"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":[0.001910988,0.0003190218,0.08211786,0.0001567314,0.0002863545,0.833806,0.0009394026,0.0003884873,0.06473366,0.003856254,0.002720429,0.008764693],"study_design_scores_gemma":[0.0004318668,0.0005190461,0.2149664,0.0001564411,0.0003506941,0.7628615,0.0008290916,0.000907517,0.01035713,0.002487181,0.006011553,0.0001215068],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891914,0.0009543158,0.001290192,0.001320548,0.000285084,0.00009048555,0.001219816,0.00008965783,0.005558483],"genre_scores_gemma":[0.9952137,0.0004722861,0.00121626,0.000509312,0.0002579898,0.00003465561,0.0007747978,0.00005718149,0.001463602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004363594,"threshold_uncertainty_score":0.01376271,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01602301159636865,"score_gpt":0.2916874341021377,"score_spread":0.2756644225057691,"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."}}