{"id":"W2994681544","doi":"10.1101/2019.12.17.879189","title":"Characterization of <i>SETD1A</i> haploinsufficiency in humans and <i>Drosophila</i> defines a novel neurodevelopmental syndrome","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Western University","funders":"National Eye Institute; National Human Genome Research Institute; Canadian Institutes of Health Research; Medical Research Council; ZonMw; Canada Research Chairs; Broad Institute","keywords":"Biology; Haploinsufficiency; Microcephaly; Genetics; Drosophila melanogaster; Epigenetics; Ciliogenesis; DNA methylation; Phenotype; Function (biology); 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":[0.00009581436,0.0004993599,0.0001894622,0.000696298,0.0003227459,0.0002328215,0.0002527779,0.0004135642,0.00216139],"category_scores_gemma":[0.0001891077,0.000155697,0.0002256428,0.0002254307,0.0003450227,0.00005961016,0.0002812417,0.0003226256,0.0002835677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001981066,"about_ca_system_score_gemma":0.0001006744,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009510213,"about_ca_topic_score_gemma":0.001600735,"domain_scores_codex":[0.9998664,0.0000134152,0.00001785264,0.00005191721,0.00003765157,0.00001279491],"domain_scores_gemma":[0.9999025,0.00002263505,0.00003669868,0.000006875574,0.00000695907,0.00002431042],"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":[0.0002196674,0.00005195942,0.0391696,0.000070474,0.00008796273,0.01544307,0.0002494183,0.0002504745,0.9366524,0.0003759461,0.0004688766,0.00696021],"study_design_scores_gemma":[0.0001094695,0.0006581256,0.5701111,0.00007727693,0.000209948,0.1688402,0.0004201544,0.002998103,0.2431218,0.0004140479,0.01299401,0.00004577132],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967774,0.0002890218,0.001144243,0.00005582132,0.000008584176,0.00002278418,0.0007182732,0.00004169897,0.0009423303],"genre_scores_gemma":[0.9973949,0.0001473171,0.001204889,0.00006978313,0.000005887786,0.0000132894,0.0007022258,0.00002210045,0.0004394241],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00216139,"threshold_uncertainty_score":0.00723052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009120140010169241,"score_gpt":0.1934281836679835,"score_spread":0.1843080436578142,"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."}}