{"id":"W3120689037","doi":"10.1101/2020.12.30.424813","title":"<i>Drosophila</i> functional screening of <i>de novo</i> variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Office of Research Infrastructure Programs, National Institutes of Health; Canadian Institutes of Health Research; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Simons Foundation Autism Research Initiative","keywords":"Autism; Autism spectrum disorder; Phenotype; Missense mutation; Gene; Genetics; Biology; Neurodevelopmental disorder; Drosophila (subgenus); Psychology; Developmental psychology","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":[0.0003515205,0.0005661705,0.0003525125,0.0005731647,0.0003312423,0.0004560039,0.0004324534,0.0004163586,0.003108725],"category_scores_gemma":[0.0002726962,0.0002121884,0.0003637258,0.0003386535,0.000378221,0.0001562756,0.0004507025,0.0007306965,0.001274283],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003860665,"about_ca_system_score_gemma":0.0002591029,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001337567,"about_ca_topic_score_gemma":0.002661936,"domain_scores_codex":[0.9997646,0.00004178563,0.00002592389,0.00006103405,0.00007667258,0.00002995048],"domain_scores_gemma":[0.9998159,0.0000523585,0.00005406491,0.00003908366,0.00001512927,0.00002343827],"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":[0.00004325375,0.00001271552,0.001339303,0.00005515256,0.00001984407,0.0002348491,0.00002635464,0.0002879457,0.9935408,0.0005515358,0.0006844436,0.00320382],"study_design_scores_gemma":[0.00002277425,0.00006053867,0.01431204,0.00001890993,0.00005676072,0.001937697,0.00004878281,0.003931099,0.9626143,0.0004687254,0.01651327,0.00001517813],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9342586,0.0012853,0.04051441,0.0009762088,0.0001276355,0.0001140733,0.009359042,0.001992928,0.01137191],"genre_scores_gemma":[0.9526089,0.0009190819,0.03387499,0.0002738098,0.00002929028,0.00006120796,0.006904881,0.0005406039,0.004787273],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003108725,"threshold_uncertainty_score":0.0103997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007820472075290739,"score_gpt":0.216064871167584,"score_spread":0.2082443990922933,"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."}}