{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002946224,0.0001461693,0.0002553605,0.000102677,0.0001008382,0.00004478499,0.000207063,0.00004046696,0.0002149924],"category_scores_gemma":[0.00004878735,0.0001296258,0.0001645865,0.0001393764,0.0002413574,0.000008435573,0.0001229991,0.00008113948,0.00000390498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002052011,"about_ca_system_score_gemma":0.00003088372,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002342739,"about_ca_topic_score_gemma":0.00004360662,"domain_scores_codex":[0.9986711,0.0002695598,0.0005913184,0.0001751072,0.0001201841,0.0001727681],"domain_scores_gemma":[0.9990326,0.00001716924,0.0003516281,0.0002427676,0.0002550239,0.000100786],"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":[0.00002409555,0.0001218185,0.0188757,0.00001541474,0.0005251543,0.000002747908,0.000660735,0.0006260016,0.9771192,0.000007574588,0.0003142663,0.001707262],"study_design_scores_gemma":[0.001075495,0.002488971,0.3797096,0.00002941002,0.000972922,0.00008876475,0.00118813,0.0004016172,0.607544,0.0000389446,0.00602351,0.0004386058],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960057,0.002524123,0.0009433269,0.00002722293,0.00007890235,0.0000746252,0.00002963079,0.000002961959,0.0003135588],"genre_scores_gemma":[0.9975938,0.0002465269,0.001714717,0.0000195146,0.0002138834,8.035884e-7,0.00005572842,0.00001916918,0.0001358827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3695752,"threshold_uncertainty_score":0.5285985,"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."}}