{"id":"W4402966464","doi":"10.1016/j.cell.2024.09.003","title":"Pervasive mislocalization of pathogenic coding variants underlying human disorders","year":2024,"lang":"en","type":"article","venue":"Cell","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; Connaught Fund; Ontario Ministry of Research and Innovation; National Institutes of Health; Ontario Ministry of Research, Innovation and Science; Susan G. Komen for the Cure; Government of Ontario; University of Toronto; Susan G. Komen; Canadian Institutes of Health Research; Susan G. Komen for the Cure, Komen Wyoming Affiliate; Cancer Prevention and Research Institute of Texas","keywords":"Biology; Genetics; Computational biology; Coding (social sciences)","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000335439,0.0004540698,0.0004936292,0.001544017,0.0003579019,0.0008229548,0.0004534746,0.0007586046,0.002871756],"category_scores_gemma":[0.001228183,0.0002292832,0.0003376147,0.0008123314,0.0006016673,0.0003859812,0.0008060894,0.0005598107,0.000969117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001989394,"about_ca_system_score_gemma":0.0002068338,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005677579,"about_ca_topic_score_gemma":0.0007770112,"domain_scores_codex":[0.9994214,0.00008851105,0.00007743268,0.0001861344,0.0001647879,0.00006175574],"domain_scores_gemma":[0.9991068,0.0002141999,0.0002911369,0.0001842464,0.00008727753,0.0001163752],"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":[0.0003551334,0.00002158559,0.01992633,0.0001035627,0.0001444668,0.007828956,0.0001886146,0.0004684713,0.958349,0.001778981,0.0008017681,0.01003301],"study_design_scores_gemma":[0.0000819355,0.0002928696,0.3039284,0.00007916591,0.0006075824,0.1000171,0.000836404,0.004187144,0.5587869,0.006496792,0.02461073,0.00007501843],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9834459,0.002321689,0.009487463,0.0004949024,0.0001667969,0.00001291246,0.00125443,0.0003633896,0.002452444],"genre_scores_gemma":[0.995827,0.0004801882,0.002337383,0.0001523159,0.00005778709,0.000005321244,0.0004353004,0.00009372215,0.000611031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002871756,"threshold_uncertainty_score":0.009606957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01424856202755986,"score_gpt":0.2576038987773421,"score_spread":0.2433553367497823,"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."}}