{"id":"W3217741386","doi":"10.1001/jamadermatol.2021.4242","title":"The Genomic and Phenotypic Landscape of Ichthyosis","year":2021,"lang":"en","type":"article","venue":"JAMA Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Human Genome Research Institute","keywords":"Medicine; Genotype; Cohort; Genotype-phenotype distinction; Exome sequencing; Genetics; Ichthyosis; Phenotype; Biology; Pathology; Gene; Dermatology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001069279,0.00007100328,0.0001208332,0.00001699736,0.00009228415,0.00001593109,0.0001389459,0.0001709178,0.00002615236],"category_scores_gemma":[0.0001336586,0.00005217482,0.00004457895,0.00005495303,0.0002108539,0.000001116496,0.0002003709,0.00008563829,0.00001018421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001820645,"about_ca_system_score_gemma":0.00007319425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003106744,"about_ca_topic_score_gemma":0.00002435244,"domain_scores_codex":[0.9992748,0.0001537229,0.0001407807,0.0001903126,0.00004624326,0.0001941673],"domain_scores_gemma":[0.9995026,0.00006155337,0.00004149253,0.0002727641,0.00008050954,0.00004105915],"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":[0.0001029762,0.00003064446,0.07867803,0.00002264604,0.0001221439,0.00006654357,0.00003663168,8.587685e-7,0.9071462,0.001759273,0.004807944,0.007226063],"study_design_scores_gemma":[0.001088399,0.00009361605,0.05393229,0.000005786553,0.0000258526,0.003180131,0.0003578849,0.00008468208,0.7984237,0.0007082626,0.1419396,0.0001598214],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9771085,0.0186917,0.00008967303,0.001472853,0.00008354575,0.00004906278,0.000005160086,0.000003433902,0.002496058],"genre_scores_gemma":[0.9967035,0.002332726,0.0001140263,0.0002100989,0.00005912628,0.000008825948,0.00004720398,0.000008095041,0.0005163782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1371316,"threshold_uncertainty_score":0.2127627,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007606448673064316,"score_gpt":0.2416181202346756,"score_spread":0.2340116715616113,"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."}}