{"id":"W2402942859","doi":"10.1038/gim.2016.54","title":"Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression","year":2016,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; Cambridge Memorial Hospital; University of Toronto; Western University; McMaster Children's Hospital; London Health Sciences Centre; McMaster University; South Bruce Grey Health Centre; William Osler Health System; Hotel Dieu Hospital; Children's Hospital of Western Ontario; Children's Hospital of Eastern Ontario; University of Ottawa; Credit Valley Hospital; Trillium Health Centre","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; GlaxoSmithKline","keywords":"Penetrance; Copy-number variation; Exon; Odds ratio; Biology; Genetics; Medicine; Phenotype; Internal medicine; Gene; Genome","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":[0.0003365148,0.0003910131,0.0002561593,0.001051915,0.0005512833,0.0003512535,0.0003729286,0.0003026853,0.002775168],"category_scores_gemma":[0.001152991,0.000222244,0.0002245234,0.0007747606,0.0004729232,0.0001635263,0.0003771815,0.0002036449,0.000575408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003118945,"about_ca_system_score_gemma":0.0003139886,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001857175,"about_ca_topic_score_gemma":0.003313589,"domain_scores_codex":[0.9996343,0.00003405783,0.0000555739,0.0001113064,0.0001021582,0.00006268252],"domain_scores_gemma":[0.9995066,0.0002170095,0.00009829891,0.0000551419,0.00006088768,0.00006212063],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001326044,0.0001027854,0.5367616,0.0002542598,0.0001204626,0.02717193,0.001416775,0.001007224,0.3963174,0.0004122106,0.001567249,0.033542],"study_design_scores_gemma":[0.00003843791,0.0001637593,0.8940408,0.00003651329,0.0001787339,0.04721671,0.0005201502,0.001065876,0.05074421,0.0002610278,0.005712163,0.00002160873],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963188,0.0003888666,0.0008250584,0.00006738574,0.000008056681,0.00001309173,0.0008724099,0.00002428255,0.001481993],"genre_scores_gemma":[0.9970205,0.0002433345,0.0008907447,0.00002553768,0.000008805276,0.00002298026,0.001160393,0.00001650638,0.0006110925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002775168,"threshold_uncertainty_score":0.009283841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02466414031493357,"score_gpt":0.2981793675387471,"score_spread":0.2735152272238135,"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."}}