{"id":"W2126694133","doi":"10.1093/jnci/djr130","title":"SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing","year":2011,"lang":"en","type":"article","venue":"JNCI Journal of the National Cancer Institute","topic":"Gastrointestinal Tumor Research and Treatment","field":"Medicine","cited_by":151,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre","funders":"","keywords":"SDHA; PDGFRA; SDHB; SDHD; Biology; Nonsense mutation; Missense mutation; Cancer research; Mutation; Genetics; Germline mutation; Gene; Stromal cell; GiST","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":[0.0002494867,0.0001881145,0.0002180216,0.0003190022,0.000162963,0.0002829236,0.0001252171,0.0001811925,0.0002102534],"category_scores_gemma":[0.0004769878,0.0001327158,0.000248515,0.0002621173,0.0001510186,0.0001274685,0.0001460191,0.0001729678,0.000085403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001620688,"about_ca_system_score_gemma":0.0001165635,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005160364,"about_ca_topic_score_gemma":0.001165162,"domain_scores_codex":[0.999908,0.00002013909,0.000009085976,0.0000194446,0.00003271698,0.00001066261],"domain_scores_gemma":[0.9998987,0.00003595222,0.00003021819,0.00001084131,0.00000965102,0.00001458861],"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":[0.001193709,0.0002294241,0.1964293,0.0002344771,0.0002421984,0.005867493,0.0003899332,0.03294411,0.6932685,0.000844081,0.00120167,0.06715503],"study_design_scores_gemma":[0.0002157631,0.0007103296,0.4733561,0.00005433961,0.0003357956,0.0117424,0.0005652593,0.3085117,0.1944673,0.0047244,0.005258367,0.00005840129],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974611,0.0001080024,0.001980004,0.00004651604,0.000002655787,0.000009013899,0.0001530808,0.00005472832,0.0001848459],"genre_scores_gemma":[0.9950671,0.0001112693,0.004142664,0.00002999518,0.000003364807,0.000008376918,0.0005301224,0.00001091054,0.00009633892],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0005160364,"threshold_uncertainty_score":0.001319468,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1036929233643207,"score_gpt":0.3416234020418656,"score_spread":0.2379304786775449,"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."}}