{"id":"W4210336092","doi":"10.1002/humu.24331","title":"Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing","year":2022,"lang":"en","type":"article","venue":"Human Mutation","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"","keywords":"Biology; Epidermolysis bullosa; Genetics; Heteroduplex; genomic DNA; Molecular biology; Mutation; Exon; DNA sequencing; DNA; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000389676,0.00008982902,0.0001273805,0.00008610554,0.0001571744,0.000005576031,0.000113535,0.00008270056,0.0001442795],"category_scores_gemma":[0.00007302752,0.00009844541,0.00006694083,0.0001991141,0.00005699779,0.000004372401,0.00008576104,0.0001421867,0.000003100991],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008373465,"about_ca_system_score_gemma":0.000055445,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004821448,"about_ca_topic_score_gemma":0.0002386134,"domain_scores_codex":[0.9988626,0.0002807519,0.0002543219,0.0002686656,0.0001556432,0.0001780507],"domain_scores_gemma":[0.9996017,0.00001531663,0.0001063099,0.0002004457,0.00005454947,0.00002163089],"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":[0.00005656545,0.00003939837,0.0012513,0.0000160634,0.00002769557,0.0001308049,0.0003542693,0.0005360919,0.9958098,0.00005297403,0.00002559497,0.001699474],"study_design_scores_gemma":[0.0006154929,0.0004056159,0.006096474,0.000007738592,0.00001586086,0.0003777151,0.000743325,0.0003564708,0.9902233,0.0007524523,0.0002572075,0.0001482948],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970737,0.0007183847,0.001586475,0.000030683,0.00006317586,0.000181372,0.00001045518,0.000007673842,0.0003280528],"genre_scores_gemma":[0.9988285,0.00003260543,0.0001012553,0.00003475155,0.00004372463,0.00006157734,0.0005088131,0.00001360482,0.0003751349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005586416,"threshold_uncertainty_score":0.4014487,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02520444465095316,"score_gpt":0.2941094198754219,"score_spread":0.2689049752244687,"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."}}