{"id":"W3091586592","doi":"10.1016/j.ajhg.2020.09.006","title":"Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction","year":2020,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Allergy and Infectious Diseases; National Institutes of Health; Research Grants Council, University Grants Committee; Lupus Research Alliance; Canadian Institutes of Health Research; Li Ka Shing Foundation","keywords":"DNA; Nuclease; Biology; DNA fragmentation; Gene; Molecular biology; Naked DNA; In vivo; Genetics; Plasmid; Programmed cell death","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":[0.0004338668,0.0001002698,0.000284492,0.00007614529,0.0001242006,0.00002802418,0.0001012736,0.00003293622,0.0000122274],"category_scores_gemma":[0.001504539,0.00007128081,0.00003828858,0.0004383567,0.000191947,0.00004875655,0.00002608711,0.0004345385,0.000003449687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003555821,"about_ca_system_score_gemma":0.0001350829,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001524688,"about_ca_topic_score_gemma":0.00007826282,"domain_scores_codex":[0.9987581,0.0002503518,0.0005080081,0.0001245364,0.0002282947,0.0001306967],"domain_scores_gemma":[0.9984027,0.0005598549,0.0004596165,0.0001175853,0.000210477,0.0002498096],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001155445,0.0002287227,0.9838622,0.000008827259,0.0001330599,0.00008662204,0.001510265,0.003059842,0.003022112,0.00002610482,0.002042484,0.004864318],"study_design_scores_gemma":[0.001146627,0.003517105,0.9881129,0.0001591018,0.0001800538,0.00006821501,0.001085569,0.00416888,0.001346202,0.00005793627,0.00006071035,0.00009664573],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977199,0.00006497971,0.0003483912,0.001475784,0.00004300296,0.0002188756,0.00001715446,0.00001588598,0.00009598034],"genre_scores_gemma":[0.9950813,0.00006692547,0.004030367,0.0006207753,0.000118175,0.000004587617,0.00001447585,0.00001602686,0.00004733367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004767672,"threshold_uncertainty_score":0.2906747,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1229036929503707,"score_gpt":0.314863841626549,"score_spread":0.1919601486761782,"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."}}