{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001089663,0.0003998341,0.0005569596,0.002238069,0.0004091609,0.0006077042,0.0005468798,0.0006161054,0.001476611],"category_scores_gemma":[0.002862127,0.0001564009,0.0004876683,0.001126208,0.0004242985,0.000233935,0.0010206,0.0003503868,0.0002300667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007360784,"about_ca_system_score_gemma":0.0006097834,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01213613,"about_ca_topic_score_gemma":0.02587449,"domain_scores_codex":[0.9988025,0.0001558588,0.00009089134,0.000510584,0.0003014129,0.0001387686],"domain_scores_gemma":[0.9988403,0.000431632,0.0002962758,0.0001187131,0.0002030127,0.0001101843],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005523151,0.00008460996,0.6554959,0.0002984526,0.0007709194,0.003122919,0.001008954,0.002675499,0.2710037,0.0008380865,0.0008519111,0.06329663],"study_design_scores_gemma":[0.00007057193,0.0003373596,0.9519616,0.00008960248,0.0005141634,0.006982426,0.0003043886,0.005305601,0.02804845,0.001218331,0.005129463,0.00003812549],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9795497,0.001618077,0.0145737,0.0001647369,0.00001602869,0.0002006389,0.002004176,0.0001416679,0.001731223],"genre_scores_gemma":[0.9876832,0.0004041429,0.0100929,0.0001763211,0.00001035918,0.00009637799,0.001097668,0.00002333818,0.0004156514],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01213613,"threshold_uncertainty_score":0.024131,"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."}}