{"id":"W4282925771","doi":"10.1101/2022.06.10.22276179","title":"Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Medical Research Council","keywords":"Nonsynonymous substitution; In silico; Germline; Biology; Genetics; Somatic cell; Germline mutation; Gene; Genome; Computational biology; Mutation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003166052,0.0001251403,0.0002067785,0.00005392247,0.00002974569,0.000007164534,0.0001143525,0.0001658753,0.00002250838],"category_scores_gemma":[0.0001264636,0.0001343925,0.00007393147,0.00004270301,0.00002850264,0.000001429268,0.0003480405,0.0001593767,1.171004e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007767019,"about_ca_system_score_gemma":0.00003918146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001991533,"about_ca_topic_score_gemma":0.000008765817,"domain_scores_codex":[0.999146,0.00005384508,0.0003342136,0.0002442353,0.0001285643,0.00009318667],"domain_scores_gemma":[0.9993661,0.00001432042,0.000238511,0.0002899656,0.00006596046,0.00002516087],"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":[0.00001060991,0.00002041133,0.006902646,0.0004430549,0.00004577331,5.851039e-7,0.0002775842,0.006310453,0.9856374,0.00002688992,0.000005766898,0.0003187995],"study_design_scores_gemma":[0.0003870507,0.0001860614,0.4911576,0.00007187186,0.0001445466,0.000009393269,0.000176747,0.004263819,0.5020632,0.0004451736,0.0007614266,0.0003331418],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9757745,0.001646227,0.02195928,0.00003663328,0.0002559108,0.0001687461,0.00007940794,0.000006684406,0.00007260929],"genre_scores_gemma":[0.9966434,0.0003197701,0.00241821,0.00001000962,0.0002135756,0.00001964285,0.0003257127,0.00001567845,0.00003400917],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4842549,"threshold_uncertainty_score":0.5480366,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008484671551115833,"score_gpt":0.2733296735669767,"score_spread":0.2648450020158609,"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."}}