{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001829378,0.0008822541,0.0006206086,0.001534439,0.0007092657,0.0003520216,0.0006245665,0.001495568,0.003105738],"category_scores_gemma":[0.0009181245,0.000345513,0.0006542684,0.00099897,0.0007203948,0.0001675816,0.000599281,0.0005214645,0.00034213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004971374,"about_ca_system_score_gemma":0.0004021315,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004415675,"about_ca_topic_score_gemma":0.003391177,"domain_scores_codex":[0.9997074,0.00003121059,0.00004170477,0.00009708132,0.0000709493,0.0000516638],"domain_scores_gemma":[0.9993623,0.0002511117,0.0001725661,0.00002762259,0.00003534216,0.0001509971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001716258,0.0002490064,0.07119997,0.0001308517,0.0002448126,0.5460201,0.001412609,0.001218548,0.3639767,0.001928861,0.0008402554,0.01106199],"study_design_scores_gemma":[0.000299947,0.0007533377,0.4413118,0.00009249432,0.0004925962,0.5088778,0.0006532465,0.002460094,0.03975685,0.001657828,0.003541412,0.0001025539],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997479,0.000202777,0.0006785295,0.0002497549,0.00003887787,0.00002150587,0.0002652941,0.00004445402,0.001019833],"genre_scores_gemma":[0.9986805,0.00007237008,0.0006369277,0.00005388643,0.00002069382,0.000007580287,0.0001434144,0.000009618701,0.000374895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004415675,"threshold_uncertainty_score":0.01038969,"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."}}