{"id":"W4214718780","doi":"10.1093/hmg/ddac053","title":"De novo variants in <i>EMC1</i> lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in <i>Drosophila</i>","year":2022,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Baylor-Hopkins Center for Mendelian Genomics; National Institutes of Health; Warren Alpert Foundation","keywords":"Biology; Exome sequencing; Genetics; Phenotype; Gene knockdown; Loss function; Allele; Exome; Compound heterozygosity; Gene","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":[0.0001146945,0.0007823846,0.0002181751,0.0004128068,0.0002984478,0.0002272069,0.0002857159,0.0005356866,0.001915753],"category_scores_gemma":[0.0001733525,0.0001346434,0.0002961965,0.0001933084,0.0003212622,0.000124677,0.0002982418,0.0006069228,0.0003892495],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004139789,"about_ca_system_score_gemma":0.0001819648,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001462168,"about_ca_topic_score_gemma":0.003796112,"domain_scores_codex":[0.9998649,0.00001292529,0.0000193595,0.00005677266,0.0000301086,0.00001586757],"domain_scores_gemma":[0.9998196,0.00003920337,0.0000737829,0.00001735918,0.00001513321,0.0000349439],"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":[0.0001256585,0.00005417758,0.0037026,0.00007282711,0.00004455727,0.003412575,0.00005343095,0.0002441331,0.9883306,0.000250532,0.0002544936,0.003454438],"study_design_scores_gemma":[0.00007009395,0.0004756657,0.116202,0.00005115761,0.0002284442,0.02856637,0.0001458272,0.003402623,0.8411805,0.0002165013,0.009423248,0.00003758828],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922693,0.0004139639,0.003623439,0.0001049222,0.00002388633,0.00005891583,0.001455506,0.0001915586,0.001858557],"genre_scores_gemma":[0.9911948,0.0004335707,0.004451836,0.00012621,0.00001451969,0.00003807612,0.001434036,0.000102077,0.002204743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001915753,"threshold_uncertainty_score":0.006408811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02150907228412287,"score_gpt":0.2449998193068423,"score_spread":0.2234907470227194,"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."}}