{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002158016,0.0001328738,0.0001972211,0.00005755858,0.00005284817,0.000005697113,0.0001527501,0.00008799341,0.00005573633],"category_scores_gemma":[0.0003319076,0.00009890424,0.00006856813,0.00005069071,0.0001650641,0.000004377635,0.00008378946,0.00003709504,0.00000118493],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001330314,"about_ca_system_score_gemma":0.0001256966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001942059,"about_ca_topic_score_gemma":0.00002878559,"domain_scores_codex":[0.9986808,0.00007299124,0.0006376029,0.0003225201,0.000120175,0.0001659254],"domain_scores_gemma":[0.9992276,0.00006014504,0.000196052,0.0003071008,0.00009531507,0.0001137374],"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":[0.00009733204,0.00006632546,0.08114681,0.00001810587,0.00002046648,0.000008120131,0.00007113373,0.000004847155,0.9177144,0.00004053167,0.0002526699,0.00055922],"study_design_scores_gemma":[0.001709476,0.0002697202,0.3019466,0.0001577256,0.00006272651,0.000007350446,0.0001484728,0.00002368424,0.6880846,0.0004597097,0.006924389,0.0002055329],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9845151,0.0006783361,0.01317379,0.0005247716,0.0003561897,0.0002661692,0.0004655108,0.000005784172,0.00001440257],"genre_scores_gemma":[0.995474,0.00148495,0.001424104,0.0002176032,0.0002486703,0.00005690364,0.0009291287,0.00001907073,0.0001456047],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2296299,"threshold_uncertainty_score":0.4033198,"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."}}