{"id":"W4281758630","doi":"10.1002/mgg3.1986","title":"Targeted copy number variant identification across the neurodegenerative disease spectrum","year":2022,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; McMaster University; Toronto Western Hospital; Centre for Addiction and Mental Health; McGill University; London Health Sciences Centre; Thunder Bay Regional Research Institute; Ottawa Hospital; Bruyère; Baycrest Hospital; Lawson Health Research Institute; Occupational Cancer Research Centre; University of Calgary; Health Sciences Centre; NOSM University; Parkwood Institute; Public Health Ontario; University of Ottawa; St Joseph's Health Care; Western University; Toronto Dementia Research Alliance; Montreal Neurological Institute and Hospital; University of Toronto; St. Michael's Hospital; Sunnybrook Health Science Centre","funders":"Canadian Institutes of Health Research","keywords":"Copy-number variation; Gene duplication; Disease; Missing heritability problem; Genetics; Amyotrophic lateral sclerosis; Biology; Exon; Neurodegeneration; Medicine; Gene; Single-nucleotide polymorphism; Genome; Pathology; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005224561,0.0002694123,0.0002004477,0.00003325834,0.0006498349,0.00004463955,0.0006060403,0.00005408092,0.0005821421],"category_scores_gemma":[0.00005531842,0.0002269179,0.0001169535,0.0001965206,0.0002134898,0.000003155528,0.000527201,0.000201621,0.00003960987],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007052861,"about_ca_system_score_gemma":0.0001875591,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006828061,"about_ca_topic_score_gemma":0.00001683071,"domain_scores_codex":[0.9977723,0.0003536161,0.0004762616,0.0005900567,0.0003714825,0.0004363059],"domain_scores_gemma":[0.9985781,0.00001592905,0.0002145081,0.0009332917,0.00008592826,0.0001722836],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001650034,0.0001121867,0.004038832,0.00001608922,0.0001817351,0.00008641581,0.001577142,0.01898696,0.9677435,0.002870588,0.003821804,0.0003997247],"study_design_scores_gemma":[0.004464084,0.001244143,0.1054035,0.00001813849,0.0005825571,0.0006521724,0.004418639,0.004123887,0.3985437,0.005973342,0.4728674,0.001708442],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9786979,0.003035378,0.0120683,0.004289625,0.0007654854,0.0005211275,0.000248993,0.00002030384,0.0003528943],"genre_scores_gemma":[0.9940091,0.0002735087,0.0001960412,0.002104166,0.000492375,0.0002035836,0.0008970647,0.00005845427,0.001765739],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5691998,"threshold_uncertainty_score":0.9253445,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007045595582349455,"score_gpt":0.244343710782656,"score_spread":0.2372981152003066,"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."}}