{"id":"W3036751310","doi":"10.1111/jdv.16767","title":"Genomic profiling of late‐onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome","year":2020,"lang":"en","type":"article","venue":"Journal of the European Academy of Dermatology and Venereology","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cytodiagnostics (Canada)","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; Institut Gustave-Roussy; National Institute of Environmental Health Sciences; National Cancer Institute; Swiss Cancer Research Foundation; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Nevoid basal-cell carcinoma syndrome; PTCH1; Loss of heterozygosity; Germline mutation; Biology; Germline; Genetics; Exome; Mutation; Basal cell carcinoma; Exome sequencing; Cancer research; Pathology; Medicine; Allele; Basal cell; Hedgehog; 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":[0.0001560538,0.0002915837,0.0003529958,0.00121123,0.0005554789,0.0004827929,0.0002242442,0.0005991862,0.001423985],"category_scores_gemma":[0.0008931878,0.0002760931,0.0002915551,0.0003637549,0.000220631,0.0001333302,0.000406487,0.0003873495,0.000497793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002608543,"about_ca_system_score_gemma":0.000140027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001547698,"about_ca_topic_score_gemma":0.002117486,"domain_scores_codex":[0.9996444,0.00002664613,0.00003281668,0.000103416,0.000153417,0.00003940624],"domain_scores_gemma":[0.9995209,0.000108239,0.00008289337,0.00004939255,0.000106161,0.0001323579],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005479531,0.0001844505,0.4208871,0.0001304407,0.0001106137,0.1299324,0.00340613,0.0002352768,0.4329308,0.0001474864,0.0005505902,0.01093683],"study_design_scores_gemma":[0.00002072249,0.000342817,0.7789877,0.00002605969,0.0001152921,0.1797319,0.001517759,0.0009757191,0.03539281,0.0001069885,0.002758391,0.00002381474],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988017,0.0001450559,0.0003620486,0.00003211051,0.000007433885,0.00001149332,0.0001896108,0.00001068685,0.0004399199],"genre_scores_gemma":[0.9983007,0.0001089615,0.0006216076,0.0000453479,0.000006665604,0.000006769152,0.000406456,0.00001409188,0.0004892993],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001547698,"threshold_uncertainty_score":0.004763722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01476556199041664,"score_gpt":0.2174892069527538,"score_spread":0.2027236449623371,"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."}}