{"id":"W2001692558","doi":"10.1038/sj.ejhg.5200409","title":"Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses","year":2000,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Bone Tumor Diagnosis and Treatments","field":"Medicine","cited_by":86,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital","funders":"Wellcome Trust","keywords":"Denaturing high performance liquid chromatography; Single-strand conformation polymorphism; Genetics; Amplicon; Biology; Molecular biology; Hereditary multiple exostoses; Mutation; Gene; Exon; Gene mutation; Polymerase chain reaction","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":[0.0001685444,0.00009450737,0.0003295254,0.000381328,0.00005646272,0.000007801015,0.00003632182,0.00001881714,0.0000102562],"category_scores_gemma":[0.00001014978,0.00008346603,0.00007360955,0.0001617629,0.00007971951,0.00007814004,0.00000826933,0.00008008933,1.706219e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001420579,"about_ca_system_score_gemma":0.000008526604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001085932,"about_ca_topic_score_gemma":0.00003261622,"domain_scores_codex":[0.9990079,0.000052209,0.0006293115,0.00007892977,0.000141876,0.00008977109],"domain_scores_gemma":[0.9993743,0.00004282907,0.0003435103,0.0000806674,0.00009642254,0.00006230218],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001366445,0.001180536,0.6781718,0.0003717648,0.0008676054,0.00004785398,0.003391335,0.002469267,0.2392718,0.00000259345,0.000009749606,0.07284926],"study_design_scores_gemma":[0.002771754,0.002852556,0.7517853,0.000198667,0.0005829713,0.00004525114,0.0001550974,0.001191239,0.240348,0.00000263254,0.00001066858,0.00005582856],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963397,0.003252158,0.0001725201,0.00001243647,0.0000252477,0.0001555797,0.000008447674,0.000003393684,0.00003055451],"genre_scores_gemma":[0.9981279,0.00049885,0.001302239,0.000005623321,0.00003465089,0.000001128447,0.00001451588,0.000012189,0.000002886625],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0736135,"threshold_uncertainty_score":0.3403646,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02280527759900421,"score_gpt":0.2664120170939993,"score_spread":0.2436067394949951,"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."}}