{"id":"W4220833543","doi":"10.1016/j.celrep.2022.110517","title":"Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases","year":2022,"lang":"en","type":"article","venue":"Cell Reports","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; Canadian Institutes of Health Research; National Eye Institute; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; Regione Toscana; Ministero dell’Istruzione, dell’Università e della Ricerca; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; Robert and Janice McNair Foundation; ZonMw; Simons Foundation Autism Research Initiative; Office of Research Infrastructure Programs, National Institutes of Health; Dipartimenti di Eccellenza; American Academy of Neurology; Warren Alpert Foundation","keywords":"Phenotype; Autism spectrum disorder; Autism; Genetics; Biology; Missense mutation; Gene; Neurodevelopmental disorder; Candidate gene; Neuroscience; Medicine; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001856347,0.000507284,0.0003147979,0.0007206423,0.0002623281,0.0003071876,0.0003104157,0.0003860866,0.001934194],"category_scores_gemma":[0.0002297596,0.0001729874,0.0002770244,0.0003474279,0.0003333954,0.0001092634,0.0004166498,0.000410763,0.0004371054],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000258256,"about_ca_system_score_gemma":0.0002130986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009285551,"about_ca_topic_score_gemma":0.003358404,"domain_scores_codex":[0.9997887,0.0000319317,0.00002762734,0.00005525434,0.0000721894,0.00002429579],"domain_scores_gemma":[0.9998098,0.00006986949,0.00005958896,0.000023962,0.00000985413,0.00002693174],"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":[0.00003793132,0.00001628434,0.001398984,0.00003923285,0.00001813348,0.0003390551,0.00002174991,0.0002051387,0.9943379,0.0002978131,0.0001028132,0.003185053],"study_design_scores_gemma":[0.00003068423,0.0001953824,0.0297235,0.00001736027,0.0000904668,0.003506829,0.00008069268,0.003587686,0.9555511,0.0002583858,0.006941705,0.00001631378],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.979186,0.0006571266,0.01397891,0.0001829051,0.00002900674,0.00007720303,0.00228964,0.0004605018,0.003138816],"genre_scores_gemma":[0.9810598,0.0006895548,0.01486889,0.00008978744,0.000007153425,0.0000344496,0.00144097,0.0001010768,0.001708288],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001934194,"threshold_uncertainty_score":0.006470561,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006846149360507695,"score_gpt":0.2272334481403535,"score_spread":0.2203872987798458,"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."}}