{"id":"W2062616602","doi":"10.1038/ejhg.2008.228","title":"A 15q13.3 microdeletion segregating with autism","year":2008,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":178,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Medical Research Council; National Institutes of Health; Wellcome Trust; Health Research Board; National Institute for Health and Care Research; Genome Canada; Deutsche Forschungsgemeinschaft; Deutsches Krebsforschungszentrum; Autism Speaks","keywords":"Autism; Microdeletion syndrome; Angelman syndrome; Genetics; Copy-number variation; Epilepsy; Genome-wide association study; Biology; Locus (genetics); Chromosome 15; Phenotype; Chromosome; Medicine; Single-nucleotide polymorphism; Psychiatry; Neuroscience; Gene; Genome; Genotype","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":[0.0002207807,0.0001119266,0.0001104041,0.00004589223,0.0001901335,0.00002095541,0.000183403,0.00002294762,0.00002770642],"category_scores_gemma":[0.000008436667,0.00009326752,0.00006931089,0.00004097366,0.00008242865,0.000004040623,0.00005159798,0.0001047335,0.00000930243],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001023466,"about_ca_system_score_gemma":0.00005857001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001082616,"about_ca_topic_score_gemma":0.000002558703,"domain_scores_codex":[0.9991592,0.0001345943,0.000323209,0.0001124768,0.0001267816,0.0001437926],"domain_scores_gemma":[0.9993537,0.000003088148,0.0002763467,0.0001670595,0.0001303116,0.00006947274],"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":[0.00008776099,0.0001284084,0.02005648,0.00002361848,0.0001832452,0.0003753632,0.001624087,0.001662693,0.9703687,0.0002102623,0.003789214,0.001490141],"study_design_scores_gemma":[0.007065406,0.01260191,0.388055,0.0002537121,0.0002509361,0.01791357,0.001582753,0.0000799099,0.4416356,0.0002373389,0.1288961,0.001427869],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938941,0.0006769064,0.002432985,0.00005891338,0.00006846491,0.00003907936,0.00000357992,0.000004276264,0.002821707],"genre_scores_gemma":[0.9918025,0.0001656589,0.006657559,0.00009115165,0.0003672783,3.280692e-7,0.00001171485,0.00003006047,0.0008737611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5287331,"threshold_uncertainty_score":0.3803339,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01427149867375708,"score_gpt":0.2083482242778259,"score_spread":0.1940767256040689,"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."}}