{"id":"W2915892951","doi":"10.1172/jci.insight.126180","title":"Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2","year":2019,"lang":"en","type":"article","venue":"JCI Insight","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Barncancerfonden; Sigrid Juséliuksen Säätiö; Samfundet Folkhälsan; Novo Nordisk; Deutsche Forschungsgemeinschaft; Allgemeine Unfallversicherungsanstalt; Helsingin Yliopisto; Folkhälsanin Tutkimussäätiö; Minerva Foundation; Novo Nordisk Fonden; Lastentautien Tutkimussäätiö; Academy of Finland; National Center for Advancing Translational Sciences; Sahlgrenska Universitetssjukhuset; Vetenskapsrådet","keywords":"Endocrinology; Missense mutation; Internal medicine; Osteoporosis; Bone remodeling; Exome sequencing; Medicine; Biology; Phenotype; Genetics; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000128252,0.0001472913,0.000181423,0.00004754216,0.00003334472,0.00002802985,0.0001084022,0.000165198,0.00007191781],"category_scores_gemma":[0.00002277601,0.0001370989,0.0000457762,0.00009292617,0.00003503431,0.000007761413,0.00008237274,0.00009275145,0.00003304257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007288905,"about_ca_system_score_gemma":0.00003698524,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003287866,"about_ca_topic_score_gemma":0.0000255279,"domain_scores_codex":[0.9990656,0.00004796226,0.0001869788,0.0003608621,0.0001022141,0.0002363499],"domain_scores_gemma":[0.9995847,0.0000101061,0.00005262764,0.0002547172,0.00002281564,0.0000749774],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001785962,0.0000391379,0.009509554,0.00001464253,0.0000173343,0.000004960508,0.0001657135,0.000004441495,0.9887602,0.00007421892,0.0005854599,0.0008064389],"study_design_scores_gemma":[0.005087653,0.0004080493,0.07849259,0.00004863009,0.00005480234,0.00003562808,0.0002522623,0.0002109895,0.6967541,0.00009630096,0.2177552,0.0008037697],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948879,0.002999119,0.0000391123,0.00004789786,0.0002632347,0.0001664873,0.0000236155,0.000008966093,0.001563637],"genre_scores_gemma":[0.9981984,0.0003503707,0.0001209247,0.0002932616,0.0001295039,0.00001138208,0.0001000714,0.00002252058,0.0007735455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2920062,"threshold_uncertainty_score":0.5590729,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005105641953175439,"score_gpt":0.2103380967822035,"score_spread":0.205232454829028,"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."}}