{"id":"W4389398607","doi":"10.1038/s41467-023-43041-4","title":"Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation","year":2023,"lang":"en","type":"article","venue":"Nature Communications","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Common Fund; National Institute on Drug Abuse; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Medical Research Council; Versus Arthritis; Diabetes UK; Department of Health and Social Care; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; NIH Office of the Director; Cancer Research UK; Academy of Medical Sciences; National Human Genome Research Institute; Wellcome Trust; National Cancer Institute; British Heart Foundation; National Institutes of Health; Wellcome","keywords":"Germline; Somatic cell; Genetics; Genome; Germline mutation; Biology; Pathogenicity; Saturation (graph theory); Computational biology; Mutation; Gene; Microbiology","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":[0.0003155238,0.0003489436,0.0003302298,0.000335661,0.000186714,0.0003888266,0.0001796925,0.0003632492,0.00148939],"category_scores_gemma":[0.001018441,0.0001107663,0.00032016,0.0002429072,0.0003583053,0.0001371968,0.000371576,0.0004573037,0.0002342868],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002931796,"about_ca_system_score_gemma":0.0002150269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00103619,"about_ca_topic_score_gemma":0.001862041,"domain_scores_codex":[0.9997968,0.00003020399,0.0000166963,0.00006847996,0.00005914296,0.00002867581],"domain_scores_gemma":[0.9993935,0.0004034652,0.00008177333,0.00006224269,0.00002274493,0.00003630387],"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":[0.0002856834,0.00005454392,0.01400981,0.00005210214,0.00005014595,0.0002944109,0.00004560184,0.007726911,0.9621651,0.0004491774,0.0001048387,0.01476169],"study_design_scores_gemma":[0.00002761629,0.0003754391,0.04346112,0.00001476463,0.00007850075,0.001532065,0.00005687794,0.09948084,0.8510604,0.001085928,0.002796307,0.00003015339],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.984297,0.0001725634,0.01400295,0.00004806522,0.000008969148,0.00001814574,0.0003431648,0.0002303929,0.0008788776],"genre_scores_gemma":[0.992728,0.00008190555,0.006312597,0.00003290167,0.000002518959,0.000009185237,0.0004263409,0.00004240646,0.0003642177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00148939,"threshold_uncertainty_score":0.004982531,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01000905965089262,"score_gpt":0.3103266341989091,"score_spread":0.3003175745480165,"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."}}