{"id":"W4322623258","doi":"10.1016/j.ymgme.2023.107454","title":"THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE","year":2023,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Dermatological diseases and infestations","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"Medicine; Odds ratio; Confidence interval; Logistic regression; Environmental health; Cross-sectional study; Veterinary medicine; Internal medicine; Pathology","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":[0.1621596,0.001016189,0.002419592,0.01024993,0.003351711,0.005287986,0.005009443,0.004155498,0.003675885],"category_scores_gemma":[0.1801739,0.0007069703,0.002606513,0.004786259,0.002205964,0.002453161,0.008380378,0.003799719,0.002099823],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003855593,"about_ca_system_score_gemma":0.01993554,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01370942,"about_ca_topic_score_gemma":0.02073917,"domain_scores_codex":[0.9355839,0.02862011,0.01539506,0.003976345,0.01366931,0.002755321],"domain_scores_gemma":[0.7398561,0.1153954,0.01356054,0.0169756,0.1057268,0.008485468],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002199868,0.000527231,0.1132433,0.00521955,0.001584445,0.002182487,0.007754877,0.00329689,0.02518461,0.01207922,0.4352929,0.3914347],"study_design_scores_gemma":[0.001622549,0.0006544937,0.1970146,0.0137482,0.003632003,0.006133007,0.005420935,0.01621545,0.03034527,0.02582886,0.6986283,0.0007563008],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.2414693,0.03086993,0.360138,0.2044829,0.006939744,0.01972634,0.04259658,0.008181646,0.0855955],"genre_scores_gemma":[0.3191788,0.004160642,0.5871785,0.03146336,0.001382687,0.007660997,0.0413159,0.001886162,0.005773076],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.1621596,"threshold_uncertainty_score":0.8575922,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1295503804277169,"score_gpt":0.4087439171935274,"score_spread":0.2791935367658106,"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."}}