{"id":"W2953381699","doi":"10.26508/lsa.201900353","title":"<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes","year":2019,"lang":"en","type":"article","venue":"Life Science Alliance","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotchkiss Brain Institute; Alberta Children's Hospital; University of Alberta; University of Calgary","funders":"Genome Alberta; Alberta Children's Hospital Foundation; Genome British Columbia; National Institutes of Health; National Science Foundation; Children's Hospital Foundation; National Institute of General Medical Sciences; Ontario Genomics Institute; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics","keywords":"Cataracts; Gene; Genetics; White (mutation); Disease; Biology; Mitochondrial DNA; Medicine; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001425953,0.0001681759,0.0001429804,0.00004153123,0.0001908968,0.00008752742,0.0002172302,0.00008814882,0.0002619392],"category_scores_gemma":[0.0000755607,0.0001584644,0.0000420059,0.000186045,0.0003447573,0.00002385977,0.0001587571,0.0001084075,0.0003116643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001114116,"about_ca_system_score_gemma":0.0001889667,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001333044,"about_ca_topic_score_gemma":0.00002251733,"domain_scores_codex":[0.9984723,0.00004054832,0.0001410918,0.0007292253,0.0002245081,0.0003923545],"domain_scores_gemma":[0.9990482,0.000008854143,0.00008213684,0.0004622972,0.00007555966,0.0003228953],"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":[0.00009101605,0.00002056882,0.02196144,0.00001954513,0.000006965589,0.00000739764,0.0001319549,0.00001390394,0.9684841,0.00002086075,0.009124883,0.0001173402],"study_design_scores_gemma":[0.002730362,0.0007245971,0.08933428,0.0001124703,0.00005951147,0.0001801991,0.0002751767,0.0006316167,0.424582,0.0001262319,0.479733,0.001510572],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990956,0.001166346,0.0007208317,0.003311428,0.002434399,0.0003411382,0.00005710765,0.00001624076,0.0009964909],"genre_scores_gemma":[0.9589129,0.0005537448,0.004089711,0.02176638,0.001761376,0.00003856719,0.0000649377,0.00003264461,0.01277971],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5439021,"threshold_uncertainty_score":0.6461992,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009393996866170373,"score_gpt":0.2398951299182424,"score_spread":0.230501133052072,"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."}}