{"id":"W1976428492","doi":"10.1002/humu.10097","title":"Comparison of DNA- and RNA-Based Methods for Detection of TruncatingBRCA1 Mutations","year":2002,"lang":"en","type":"article","venue":"Human Mutation","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Cancer Institute; American Cancer Society","keywords":"Biology; Frameshift mutation; Exon; Genetics; DNA sequencing; Single-strand conformation polymorphism; Gene; Molecular biology; Mutation; DNA; Nonsense mutation; COLD-PCR; Point mutation; Missense mutation","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":[0.006647319,0.001470403,0.0009592829,0.006388315,0.0003867565,0.0009415388,0.001285653,0.00134372,0.00100547],"category_scores_gemma":[0.0113132,0.0009006993,0.0007640827,0.001310128,0.000628918,0.0006254131,0.0007958364,0.0007758714,0.0009033551],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004380258,"about_ca_system_score_gemma":0.000384815,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005580306,"about_ca_topic_score_gemma":0.001185599,"domain_scores_codex":[0.9880019,0.004520913,0.0008546223,0.001711219,0.004499081,0.000412329],"domain_scores_gemma":[0.9852163,0.009605328,0.001383589,0.0005889789,0.002786318,0.000419516],"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":[0.001318187,0.0003495749,0.01645589,0.001247382,0.0004028142,0.0002538655,0.0003497782,0.0007849089,0.925054,0.0002235084,0.0001683204,0.05339171],"study_design_scores_gemma":[0.0001675708,0.003645092,0.05561737,0.0001761353,0.0007316818,0.003257539,0.0002093249,0.01021987,0.9214439,0.0003111347,0.004033712,0.0001866282],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8319211,0.02763763,0.1304579,0.0004784104,0.0004500147,0.001400069,0.001806426,0.001012488,0.004835856],"genre_scores_gemma":[0.6123163,0.01017005,0.3676584,0.0006188503,0.000276427,0.001518435,0.003442134,0.0002620316,0.003737376],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006647319,"threshold_uncertainty_score":0.03515482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03816431850654028,"score_gpt":0.4204313789619663,"score_spread":0.382267060455426,"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."}}