{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001282421,0.00008977943,0.000118232,0.00005658812,0.00004536245,0.000007106585,0.00004533473,0.00002533518,0.00001623124],"category_scores_gemma":[0.00004214966,0.0001031235,0.00003825481,0.00007780398,0.0000355366,0.000007282479,0.0001886758,0.00006075731,3.30627e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000135969,"about_ca_system_score_gemma":0.0000988482,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003563517,"about_ca_topic_score_gemma":0.00000276562,"domain_scores_codex":[0.9992278,0.00002596302,0.000244663,0.0002391004,0.00012738,0.0001350805],"domain_scores_gemma":[0.999697,0.00001480786,0.00009008953,0.0001471043,0.00001186077,0.00003917174],"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":[0.00004980766,0.0000654344,0.2657707,0.00006618865,0.00002082208,0.0002119597,0.0001387444,0.02167058,0.7116286,0.000008560935,0.00006743226,0.0003010934],"study_design_scores_gemma":[0.0004907003,0.0000887212,0.902939,0.00002379793,0.00002009189,0.0003580153,0.0003837371,0.0003905133,0.09458658,0.0001363799,0.0004083037,0.0001742125],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952447,0.0007136648,0.003574579,0.00001724843,0.0001419681,0.00007678599,0.00006095601,0.000003765928,0.0001662792],"genre_scores_gemma":[0.9990577,0.00003510172,0.0005405371,0.00002050178,0.00001220766,0.000008910599,0.0001264603,0.00001073651,0.0001879225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6371682,"threshold_uncertainty_score":0.4205255,"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."}}