{"id":"W3098199113","doi":"10.1038/s41467-020-19572-5","title":"Germline AGO2 mutations impair RNA interference and human neurological development","year":2020,"lang":"en","type":"article","venue":"Nature Communications","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":102,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; University of British Columbia; Children's Hospital of Eastern Ontario","funders":"National Institute of Neurological Disorders and Stroke; National Health and Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Universität Leipzig; Genome Alberta; Agence Nationale de la Recherche; Werner Otto Stiftung; National Research Foundation Singapore; Deutsche Forschungsgemeinschaft; National Medical Research Council; National Research Foundation; Ontario Genomics Institute; Genome British Columbia; Deutscher Akademischer Austauschdienst; Genome Canada; Ontario Genomics","keywords":"Argonaute; Gene silencing; RNA interference; RNA-induced silencing complex; Biology; RNA; RNA silencing; microRNA; Transcriptome; Mutation; Cell biology; Genetics; Gene expression; Gene","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":[0.00008170432,0.0006838307,0.000202477,0.0005398222,0.0001982282,0.0002158416,0.0001457628,0.0003222838,0.001868923],"category_scores_gemma":[0.0001866142,0.000148816,0.0002009388,0.000218297,0.000272266,0.00009922745,0.0002287859,0.000223654,0.0002171176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002179501,"about_ca_system_score_gemma":0.0002109693,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008570547,"about_ca_topic_score_gemma":0.001385233,"domain_scores_codex":[0.9998766,0.0000153336,0.00001705503,0.00003957385,0.0000311624,0.00002030582],"domain_scores_gemma":[0.9998627,0.0000283852,0.0000550579,0.000009003372,0.000008222264,0.00003667671],"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":[0.0006321034,0.0001138618,0.01522374,0.00004768719,0.0001162053,0.01049147,0.0001175659,0.0003707235,0.9654914,0.0004983815,0.0002492644,0.006647499],"study_design_scores_gemma":[0.0001398838,0.001516088,0.3486494,0.00004494256,0.0004395612,0.1108758,0.000223838,0.003366041,0.5275261,0.0008702375,0.006300824,0.00004725963],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979448,0.000246566,0.0004801747,0.00002357476,0.0000057074,0.000006151756,0.0001803597,0.00004560269,0.0010671],"genre_scores_gemma":[0.998772,0.0001332992,0.0003485024,0.00001458712,0.000003793465,0.000004479502,0.0001693672,0.00001333791,0.0005405121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001868923,"threshold_uncertainty_score":0.006252229,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03570950818506074,"score_gpt":0.3376861517322167,"score_spread":0.3019766435471559,"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."}}