{"id":"W1975682351","doi":"10.1038/ejhg.2013.248","title":"Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute; Children's & Women's Health Centre of British Columbia; Centre Hospitalier Universitaire Sainte-Justine; Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"Canadian Institutes of Health Research; Killam Trusts; Child and Family Research Institute","keywords":"Genetics; Biology; Intellectual disability; Exon; Copy-number variation; Gene; Microarray; Microarray analysis techniques; Candidate gene; Genome; Gene expression","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":[0.0001169705,0.0002439875,0.0003534919,0.00059722,0.0002411403,0.0002891035,0.0002620324,0.0002660798,0.001755595],"category_scores_gemma":[0.0002415255,0.0001633795,0.0003246391,0.00046038,0.0001474949,0.0001246883,0.0001975091,0.0003801358,0.0004604674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002536775,"about_ca_system_score_gemma":0.0001484379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00128527,"about_ca_topic_score_gemma":0.002449566,"domain_scores_codex":[0.9998432,0.00001513741,0.0000116676,0.00005596205,0.00003958529,0.00003436384],"domain_scores_gemma":[0.9998627,0.00007086489,0.0000191299,0.00001498173,0.00001531775,0.00001703322],"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":[0.00008652728,0.000008291038,0.0005830869,0.00001457742,0.000008610428,0.00006781055,0.00001018697,0.00006471706,0.9981024,0.00004643545,0.00003477682,0.0009727499],"study_design_scores_gemma":[0.0000352169,0.0002346707,0.161418,0.000007215239,0.0001321105,0.001668406,0.0001365034,0.002861629,0.8291226,0.0002556567,0.004113626,0.00001442264],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861303,0.0009517805,0.007762082,0.0001704582,0.00002843231,0.00002411118,0.003124218,0.00009279467,0.001715813],"genre_scores_gemma":[0.9840873,0.0006017901,0.008193826,0.0001026847,0.00001625762,0.00005887943,0.003991502,0.00002910282,0.002918573],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001755595,"threshold_uncertainty_score":0.005873024,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01271917065430859,"score_gpt":0.2190879048171255,"score_spread":0.2063687341628169,"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."}}