{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001073913,0.0007903011,0.0002390314,0.0008292691,0.0004980654,0.0003205213,0.0002983285,0.0006259424,0.00328185],"category_scores_gemma":[0.0003029506,0.0001498547,0.0002923384,0.0005580388,0.0005665581,0.0001652768,0.0004442143,0.00051965,0.0007021165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003158682,"about_ca_system_score_gemma":0.0002730627,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001233457,"about_ca_topic_score_gemma":0.00181571,"domain_scores_codex":[0.9998407,0.00001145138,0.00002122896,0.00006681673,0.00004364815,0.00001611709],"domain_scores_gemma":[0.9998739,0.00002653048,0.00004858823,0.000009910887,0.00001024401,0.00003076972],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006670877,0.0001360324,0.03460189,0.0003426783,0.0001911168,0.1468378,0.0004284091,0.00055906,0.7682778,0.00338293,0.005373721,0.03920144],"study_design_scores_gemma":[0.0001404335,0.0005474663,0.2232255,0.0001465819,0.000255457,0.5032881,0.0004211327,0.003246708,0.2051021,0.002268101,0.06128033,0.00007803787],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977138,0.001056405,0.006589444,0.00118164,0.0002299369,0.0001072366,0.004364635,0.0003784824,0.008954254],"genre_scores_gemma":[0.9846482,0.0006916051,0.005979898,0.000588131,0.0001001748,0.00003414685,0.003884547,0.00006266735,0.004010709],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00328185,"threshold_uncertainty_score":0.01097894,"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."}}