{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002264668,0.0003171717,0.0002368666,0.0005226129,0.0001529747,0.0002409328,0.0001523715,0.0004773315,0.002025038],"category_scores_gemma":[0.001146701,0.0001241248,0.0001222451,0.0003141521,0.0004001101,0.0001892074,0.0001556702,0.0004063451,0.0002892182],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002026719,"about_ca_system_score_gemma":0.0001423121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003738742,"about_ca_topic_score_gemma":0.0002622918,"domain_scores_codex":[0.9997668,0.0000438083,0.0000245936,0.00008903274,0.00005018472,0.00002567936],"domain_scores_gemma":[0.9993666,0.0002015336,0.00023487,0.0000497416,0.00005472802,0.0000926241],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001190768,0.00006361755,0.07989845,0.000105993,0.00002696839,0.01142556,0.0002126022,0.0001700412,0.8926607,0.0001722638,0.0001332328,0.01393996],"study_design_scores_gemma":[0.00005222808,0.001452119,0.3720233,0.00003402458,0.00008489397,0.1334973,0.0002478999,0.001501856,0.4876307,0.0003701411,0.003075653,0.00002986924],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933134,0.0009175849,0.003918813,0.00008239695,0.0000106926,0.00002629293,0.0003672687,0.0001026573,0.001261024],"genre_scores_gemma":[0.9982399,0.0002149136,0.0009374518,0.00002749147,0.000004385382,0.000006459404,0.0001629803,0.00002144064,0.0003851334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002025038,"threshold_uncertainty_score":0.006774426,"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."}}