{"id":"W2012294014","doi":"10.1145/2808719.2811432","title":"Clinical knowledgebase to interprete genomic variations from targeted exome sequencing of patient tumor samples","year":2015,"lang":"en","type":"article","venue":"","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Exome; Genomic sequencing; Personalized medicine; Medicine; Computational biology; Molecular diagnostics; Genomics; Cancer; DNA sequencing; Bioinformatics; Oncology; Gene; Internal medicine; Biology; Genetics; Mutation; Genome","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00363744,0.001706865,0.00206992,0.009154013,0.001188706,0.005303258,0.003832522,0.003053926,0.03028694],"category_scores_gemma":[0.02201697,0.001203409,0.001866081,0.006017991,0.0007347525,0.002952457,0.003999598,0.002927055,0.01415582],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002414351,"about_ca_system_score_gemma":0.006782357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01458292,"about_ca_topic_score_gemma":0.01961042,"domain_scores_codex":[0.9980292,0.0003352209,0.000599279,0.0004766834,0.0004567011,0.0001028869],"domain_scores_gemma":[0.9903257,0.004697391,0.0008923204,0.001936473,0.001719308,0.0004289304],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001180998,0.0005569616,0.01092995,0.007202177,0.001065958,0.005054083,0.0008501399,0.02940209,0.009877707,0.0345543,0.6224638,0.2768618],"study_design_scores_gemma":[0.0006901444,0.0001438191,0.00961885,0.002165646,0.0007499088,0.003302144,0.0004727679,0.04147683,0.009534094,0.05454521,0.8770661,0.000234579],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.007372297,0.003784969,0.1950725,0.006116914,0.0007560597,0.002485906,0.7121995,0.0436752,0.02853661],"genre_scores_gemma":[0.03417804,0.003142504,0.1945758,0.002754309,0.0001989263,0.002143889,0.754759,0.003656621,0.004590853],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.03028694,"threshold_uncertainty_score":0.1013199,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03338016274639105,"score_gpt":0.2961359779276126,"score_spread":0.2627558151812216,"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."}}