{"id":"W2999498865","doi":"10.1002/humu.23980","title":"Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica","year":2020,"lang":"en","type":"article","venue":"Human Mutation","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Acrodermatitis enteropathica; Epidermolysis bullosa; Biology; Dermatology; Exome sequencing; Mutation; Medical genetics; Genetics; Zinc deficiency (plant disorder); Gene; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005729057,0.0001132008,0.0001202417,0.00003496842,0.00007924998,0.00002740865,0.00004716192,0.00005725067,0.00002166738],"category_scores_gemma":[0.00001278842,0.0001008937,0.00003282721,0.00006158039,0.00006032916,0.000004390919,0.00003102492,0.00005215392,0.00000395751],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000289517,"about_ca_system_score_gemma":0.00003627251,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001602935,"about_ca_topic_score_gemma":0.0004105556,"domain_scores_codex":[0.9992192,0.0001109865,0.0001442728,0.0002924062,0.00006488816,0.000168274],"domain_scores_gemma":[0.99975,0.00001060017,0.00004993757,0.00010839,0.00002083674,0.00006024748],"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":[0.0004450174,0.0004218889,0.03021817,0.00010013,0.0001533828,0.0006291976,0.003668232,0.001239092,0.921537,0.00006845008,0.00006294184,0.04145643],"study_design_scores_gemma":[0.02609665,0.01948027,0.05627026,0.0002330943,0.0001951873,0.001176484,0.005903945,0.03083897,0.8415254,0.0007447782,0.01538003,0.002154962],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975716,0.000457805,0.001142566,0.0003477752,0.000006897589,0.0002704775,0.00000931358,0.000007631349,0.0001859215],"genre_scores_gemma":[0.9987889,0.00009229581,0.0004987613,0.0001686174,0.00003447261,0.00006816917,0.0003173229,0.00001378776,0.00001766323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0800117,"threshold_uncertainty_score":0.4114328,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01278738207869646,"score_gpt":0.2554500047134638,"score_spread":0.2426626226347673,"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."}}