{"id":"W2736456985","doi":"","title":"Functional significance of missense variants in BRCA1","year":2004,"lang":"en","type":"article","venue":"Cancer Research","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital","funders":"","keywords":"Missense mutation; Biology; Genetics; Gene; Allele; Ovarian cancer; Tumor suppressor gene; Transcription factor; Loss function; Phenotype; Cancer research; Cancer; Carcinogenesis","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":[0.0002082807,0.000391268,0.000275554,0.0003768045,0.0002249766,0.0002252737,0.0002486228,0.0004605605,0.001602052],"category_scores_gemma":[0.0004803893,0.0001034421,0.0004358501,0.000282029,0.0003161607,0.00007714316,0.0002140744,0.0002759042,0.0003587462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002324354,"about_ca_system_score_gemma":0.0001858825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009731834,"about_ca_topic_score_gemma":0.0009689623,"domain_scores_codex":[0.9996923,0.00005921573,0.00004871757,0.00007435148,0.00009131461,0.00003415401],"domain_scores_gemma":[0.9996967,0.0001297974,0.00006871272,0.0000198372,0.00002796712,0.00005687392],"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":[0.0003308997,0.00007711863,0.02088983,0.00008405988,0.00007616691,0.007185211,0.0001717587,0.0004101503,0.964395,0.0001822506,0.0001266528,0.006070827],"study_design_scores_gemma":[0.00007864559,0.001126841,0.2590835,0.00005608494,0.0002845271,0.03402479,0.0003681037,0.002567494,0.6945947,0.0004693069,0.007261868,0.00008416201],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997584,0.0006415196,0.0005779645,0.00004512813,0.00001960133,0.00001477852,0.0004676404,0.0000200043,0.0006294518],"genre_scores_gemma":[0.9984044,0.0001608828,0.0005823371,0.00004583879,0.000008354363,0.000007656618,0.0004816602,0.00001253318,0.0002962067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001602052,"threshold_uncertainty_score":0.005359411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0429198932877899,"score_gpt":0.3960509156054217,"score_spread":0.3531310223176318,"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."}}