{"id":"W2145474008","doi":"10.1038/nmeth.1466","title":"cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs","year":2010,"lang":"en","type":"article","venue":"Nature Methods","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":51,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre","funders":"","keywords":"Missing heritability problem; Copy-number variation; Biology; Genetics; Haplotype; Genotyping; Single-nucleotide polymorphism; Heritability; Population; Genetic association; Chromosome; Genome-wide association study; Computational biology; Genome; Genotype; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00146852,0.0008142308,0.001140962,0.0009637136,0.0006586934,0.001040512,0.002516074,0.001000105,0.005509776],"category_scores_gemma":[0.003107613,0.0006507542,0.001699157,0.0008295011,0.0005341633,0.001013932,0.001532419,0.001411864,0.0009063088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005282865,"about_ca_system_score_gemma":0.0008240595,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00487191,"about_ca_topic_score_gemma":0.006270259,"domain_scores_codex":[0.9995136,0.000171995,0.00001540006,0.0001730952,0.00008430677,0.00004153302],"domain_scores_gemma":[0.9993789,0.0003915372,0.00003970896,0.0001074892,0.00003911932,0.00004323599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0006982167,0.0002759363,0.009387572,0.0001695438,0.000695313,0.000905723,0.0003428564,0.7387673,0.0125684,0.09917051,0.007396541,0.1296219],"study_design_scores_gemma":[0.00005003946,0.00003654072,0.000597629,0.000004852593,0.00005267398,0.0001116925,0.0000110199,0.9670533,0.0006971726,0.0296085,0.00176098,0.00001553725],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.03006561,0.00007907549,0.9640274,0.0001833762,0.00005556369,0.0001101304,0.001075934,0.002696167,0.001706737],"genre_scores_gemma":[0.3411906,0.0002941351,0.6465958,0.0002347612,0.0001069217,0.0008549903,0.003995187,0.001069037,0.005658489],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.005509776,"threshold_uncertainty_score":0.01843202,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00924387398427858,"score_gpt":0.3259341040480446,"score_spread":0.316690230063766,"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."}}