{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002313864,0.0005615132,0.0004825916,0.0005962588,0.001060733,0.0003325599,0.000275804,0.002053321,0.0007242845],"category_scores_gemma":[0.0007937529,0.0002503631,0.0004775097,0.0003211673,0.000682088,0.000264899,0.00046095,0.001053344,0.0001647318],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006266148,"about_ca_system_score_gemma":0.0003678392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002058114,"about_ca_topic_score_gemma":0.002288362,"domain_scores_codex":[0.9997858,0.00004795002,0.00001760433,0.00006482343,0.00002930766,0.00005443439],"domain_scores_gemma":[0.999729,0.0001003343,0.00002644348,0.00001212274,0.000012303,0.0001198306],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0006270314,0.00061038,0.02346165,0.00006553438,0.00004597045,0.9311739,0.0008218144,0.0006451165,0.0224964,0.0007717165,0.000626463,0.01865402],"study_design_scores_gemma":[0.0001704601,0.001768023,0.04512053,0.00003524533,0.00006746338,0.9398308,0.0003964784,0.002485423,0.008012029,0.0005960766,0.001480666,0.00003695736],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916673,0.0007802518,0.00177163,0.002680579,0.0000481876,0.00006574904,0.00006740137,0.00005854118,0.002860275],"genre_scores_gemma":[0.9972801,0.0002556674,0.0009816814,0.0006961343,0.00003142321,0.00001226011,0.00003072698,0.000008455248,0.0007036076],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002058114,"threshold_uncertainty_score":0.004546404,"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."}}