{"id":"W2804720579","doi":"10.1093/pch/pxy054.083","title":"UNRAVELING INCONTINENTIA PIGMENTI: A COMPARISON OF PHENOTYPE AND GENOTYPE VARIANTS","year":2018,"lang":"en","type":"article","venue":"Paediatrics & Child Health","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Genodermatosis; Incontinentia pigmenti; Medicine; Dermatology; Rash; Dermatopathology; Genotype-phenotype distinction; Genotype; Medical genetics; Pathology; Genetics; Biology; Gene","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":[0.0006076252,0.0002541503,0.000365208,0.001877609,0.0002429519,0.0006656494,0.0003262264,0.0002532186,0.001223902],"category_scores_gemma":[0.002196073,0.0001262637,0.0002090236,0.001385368,0.0003074141,0.0005555363,0.0005989816,0.0002579894,0.0002100372],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001918456,"about_ca_system_score_gemma":0.0002002642,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009209618,"about_ca_topic_score_gemma":0.001122444,"domain_scores_codex":[0.9994701,0.000112627,0.00008529065,0.0001608189,0.0000940844,0.00007704354],"domain_scores_gemma":[0.9983441,0.0005392797,0.0007288159,0.00007228107,0.0001339951,0.0001815227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001051172,0.0000155784,0.9927527,0.00002549728,0.00002138852,0.0008940679,0.0001671409,0.00004275182,0.000921652,0.00003327899,0.00008727927,0.004933681],"study_design_scores_gemma":[0.000006266624,0.0001349983,0.9909796,0.00003173498,0.00003518482,0.006955472,0.0006582135,0.0002326254,0.0004211676,0.00006323383,0.000474828,0.00000672569],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987614,0.0005962502,0.0001328614,0.00002549257,0.000003793856,0.000006736949,0.0001993417,0.000005122679,0.0002689131],"genre_scores_gemma":[0.9990709,0.00031552,0.0003310773,0.00001543626,0.00001069251,0.000005387456,0.0001939572,0.000003700853,0.00005331121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001877609,"threshold_uncertainty_score":0.004094303,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009550294047754922,"score_gpt":0.2759661387220562,"score_spread":0.2664158446743012,"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."}}