{"id":"W3111855133","doi":"10.1038/s41525-020-00162-9","title":"Missense variant contribution to USP9X-female syndrome","year":2020,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital; Kingston Health Sciences Centre","funders":"National Eye Institute; National Human Genome Research Institute; National Institute of Mental Health; Medical Research Council; Ministero dell’Istruzione, dell’Università e della Ricerca; Simons Foundation Autism Research Initiative; Agence Nationale de la Recherche; Dipartimenti di Eccellenza; National Health and Medical Research Council; Broad Institute","keywords":"Missense mutation; Loss function; Genetics; Phenotype; Biology; Pathogenicity; Gene","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":[0.0001105573,0.0001518568,0.0001837907,0.00002922439,0.00005731663,0.000006795238,0.0001615284,0.00007686351,0.0001740827],"category_scores_gemma":[0.000173439,0.0001378886,0.00003697977,0.000104192,0.00004634422,0.000001003244,0.0001078297,0.00006643227,0.0001581029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001352315,"about_ca_system_score_gemma":0.00005367756,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000100916,"about_ca_topic_score_gemma":0.000005057432,"domain_scores_codex":[0.9989922,0.00003189445,0.000225194,0.0003863775,0.0001233205,0.000241016],"domain_scores_gemma":[0.9994015,0.000006648232,0.00004636817,0.000202566,0.00005030004,0.0002926532],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000856588,0.00001593469,0.0002453329,0.00001204571,0.0000293556,0.00008708338,0.0001599343,0.00006067827,0.9916257,0.00005469649,0.007103575,0.0005199633],"study_design_scores_gemma":[0.005358936,0.004661746,0.1130529,0.00007098815,0.0001096411,0.000898995,0.0005080618,0.0003072195,0.1493411,0.0001318276,0.7245992,0.000959458],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890411,0.000652466,0.002525231,0.006567273,0.0002007072,0.0002997542,0.00001590787,0.00001452352,0.0006830362],"genre_scores_gemma":[0.9888648,0.0001471046,0.0004563629,0.009913528,0.0001119992,0.00001297759,0.0001422698,0.00002224823,0.0003286863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8422846,"threshold_uncertainty_score":0.5622932,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01351841764222495,"score_gpt":0.2325000462959547,"score_spread":0.2189816286537298,"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."}}