{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005191759,0.0002819201,0.000266295,0.0003811842,0.0001585184,0.0003322519,0.0003190527,0.000519031,0.0008698322],"category_scores_gemma":[0.0008734018,0.000230669,0.0002541092,0.000153944,0.0003021936,0.000230212,0.0003683341,0.0004898991,0.0003579381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002251927,"about_ca_system_score_gemma":0.0001643827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004593437,"about_ca_topic_score_gemma":0.001210674,"domain_scores_codex":[0.9996067,0.00005748299,0.00003962827,0.0001636469,0.00009904739,0.0000335239],"domain_scores_gemma":[0.999383,0.0001968747,0.0001650717,0.0001216074,0.0000772423,0.00005616903],"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":[0.00003025768,0.000009165405,0.0005549588,0.00003760573,0.000009197935,0.0001342336,0.0000258149,0.0001394822,0.996172,0.0001218573,0.00003629893,0.002729175],"study_design_scores_gemma":[0.000007080524,0.00008638176,0.004756376,0.000008194672,0.00001955046,0.0008913924,0.00002741009,0.004088667,0.9878571,0.0001743289,0.002070356,0.00001325646],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8539845,0.001088176,0.1394767,0.0001177033,0.00007414897,0.0001742228,0.001284639,0.001623181,0.002176725],"genre_scores_gemma":[0.8612846,0.000623232,0.1340249,0.0001339512,0.0000107056,0.0001124364,0.001434682,0.0003096308,0.002065922],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008698322,"threshold_uncertainty_score":0.002909899,"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."}}