{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004626807,0.0002711026,0.0002509886,0.001205096,0.0003139665,0.0008024708,0.0003144562,0.0003231061,0.002595164],"category_scores_gemma":[0.00280526,0.0001394631,0.0001813479,0.001069721,0.000581018,0.0005902551,0.0007591455,0.0003799269,0.0002209665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001764276,"about_ca_system_score_gemma":0.0001739036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008770002,"about_ca_topic_score_gemma":0.001067155,"domain_scores_codex":[0.9993529,0.0002353509,0.00004474768,0.0001430094,0.0001669864,0.00005697383],"domain_scores_gemma":[0.9990514,0.0002544145,0.0004028446,0.00006643689,0.0001387419,0.00008615645],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002425203,0.00003067667,0.9569277,0.00008337019,0.0001394957,0.003190107,0.0004080755,0.0004917711,0.01002347,0.0009684978,0.0008863804,0.02660808],"study_design_scores_gemma":[0.000006674537,0.00006275492,0.9854676,0.00003508482,0.00004364877,0.01050121,0.0004216872,0.0004160969,0.0003484694,0.001507718,0.001178731,0.00001016867],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930322,0.001644713,0.001104134,0.000598453,0.00001115569,0.00001534208,0.0005216227,0.00001811257,0.003054157],"genre_scores_gemma":[0.9978588,0.0006016492,0.000650376,0.0001274295,0.0000387238,0.00001266708,0.0005175428,0.0000083409,0.0001843584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002595164,"threshold_uncertainty_score":0.008681655,"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."}}