{"id":"W2106650442","doi":"10.1038/ng.909","title":"A copy number variation morbidity map of developmental delay","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1404,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health; Wellcome Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Howard Hughes Medical Institute","keywords":"Copy-number variation; Intellectual disability; Autism; Biology; Exome sequencing; Candidate gene; Genetics; Epilepsy; Craniofacial; Comparative genomic hybridization; Autism spectrum disorder; Developmental disorder; Exome; Phenotype; Genome; Gene; Medicine; Neuroscience; Psychiatry","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":[0.0001303852,0.0004091556,0.0003674168,0.001551691,0.0002987173,0.0004062932,0.0005710038,0.0003744358,0.006442972],"category_scores_gemma":[0.0006451657,0.0002622848,0.0004875698,0.0007131358,0.00026972,0.0002198234,0.0004116631,0.0006373874,0.0005148003],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003405995,"about_ca_system_score_gemma":0.0002278475,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002692738,"about_ca_topic_score_gemma":0.001403905,"domain_scores_codex":[0.9997646,0.00002007328,0.00001467393,0.00008666675,0.00007589851,0.00003808937],"domain_scores_gemma":[0.9994726,0.0002390627,0.000107503,0.00005126564,0.00004872679,0.00008088364],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001022338,0.0001077482,0.03795942,0.00008789558,0.0001766773,0.004666403,0.000179639,0.001448201,0.9276581,0.002405181,0.0006626698,0.02362569],"study_design_scores_gemma":[0.0001213695,0.00073102,0.7091547,0.00003558447,0.0004485851,0.02344952,0.0002110413,0.00670743,0.2466142,0.005243054,0.007218191,0.00006540449],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989548,0.0007141057,0.004687544,0.0003488421,0.00003496869,0.00002262223,0.001322371,0.0001215783,0.00320014],"genre_scores_gemma":[0.9957128,0.0003160152,0.001342216,0.00005615163,0.00002688799,0.00001293457,0.0006880724,0.0000315184,0.001813313],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006442972,"threshold_uncertainty_score":0.02155387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01168665737512268,"score_gpt":0.2308621350448382,"score_spread":0.2191754776697155,"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."}}