{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004008753,0.00006452895,0.00005428169,0.00002530769,0.00004712941,0.00001793454,0.00006766026,0.00005163059,0.00002692379],"category_scores_gemma":[0.000007325669,0.00006277211,0.00006977077,0.00003799281,0.00002451328,0.000001598157,0.00003486377,0.00002375126,0.000004831486],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005643938,"about_ca_system_score_gemma":0.00004224791,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009989425,"about_ca_topic_score_gemma":0.00001724846,"domain_scores_codex":[0.9995852,0.00001523444,0.00009654856,0.0001691671,0.00004273982,0.00009108736],"domain_scores_gemma":[0.9998067,0.000004726001,0.00002346905,0.000116058,0.00001812243,0.00003089864],"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":[0.000004211152,0.00002821626,0.000307691,0.000108651,0.00002013528,0.000003952013,0.00008994518,0.0001227851,0.9980739,0.0003014123,0.0003458865,0.0005931609],"study_design_scores_gemma":[0.001525218,0.0007827895,0.01894042,0.00027116,0.000324611,0.0000259829,0.001944871,0.005231951,0.91645,0.004866662,0.04854763,0.001088667],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987682,0.002841718,0.005656539,0.00001966362,0.0001578273,0.00008621561,0.00002903081,0.000009996469,0.003517027],"genre_scores_gemma":[0.9988645,0.0003493497,0.00006398891,0.00002889004,0.00004416257,0.000003441241,0.0001662146,0.00001518241,0.0004642197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08162392,"threshold_uncertainty_score":0.2559772,"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."}}