{"id":"W3115558954","doi":"10.1101/2020.12.23.424103","title":"<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Alberta Children's Hospital; Université de Montréal; University of Calgary","funders":"European Regional Development Fund; Région Normandie; European Commission; Broad Institute","keywords":"Genetics; Biology; Gene; Intellectual disability; Phenotype; Missense mutation; Exon; Gene silencing; Argonaute; RNA interference; RNA","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":[0.00009060398,0.0008166567,0.0002148136,0.0004707465,0.0003479482,0.0001936763,0.0002301986,0.0004165447,0.002150956],"category_scores_gemma":[0.0003436407,0.0001315669,0.0002504579,0.0002601887,0.0004206175,0.0001124015,0.0002867827,0.0003282928,0.00031681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001443852,"about_ca_system_score_gemma":0.000128491,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006087982,"about_ca_topic_score_gemma":0.0005240398,"domain_scores_codex":[0.9998661,0.00001081417,0.00001604713,0.00005891051,0.00002548879,0.00002258468],"domain_scores_gemma":[0.9997695,0.00005326563,0.00009923865,0.00001323817,0.00001681938,0.00004793031],"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":[0.001087846,0.0002945727,0.2272688,0.000163281,0.0002205463,0.1801076,0.0003596483,0.0005966919,0.5727981,0.0007265881,0.001312952,0.01506342],"study_design_scores_gemma":[0.0001104825,0.000697926,0.4288292,0.00004475376,0.000264212,0.479132,0.0002158483,0.001862043,0.0839377,0.0004303157,0.004441516,0.00003408071],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997703,0.0001855623,0.001038698,0.00007432521,0.000014356,0.00001487619,0.0002409634,0.00004249592,0.0006857543],"genre_scores_gemma":[0.998703,0.00008653577,0.0005917522,0.00004142582,0.00002937971,0.00000677816,0.0002012548,0.000009873748,0.0003299224],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002150956,"threshold_uncertainty_score":0.007195652,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01252468855242553,"score_gpt":0.2118421016701062,"score_spread":0.1993174131176807,"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."}}