{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002894148,0.0001004869,0.0001175398,0.00003722532,0.00005471935,0.00001367804,0.00005984365,0.0003254526,0.000005864601],"category_scores_gemma":[0.0001229905,0.00008042438,0.00002745759,0.00003294149,0.00005616669,0.000008909495,0.00003732206,0.0002241507,7.476297e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003242505,"about_ca_system_score_gemma":0.00002760741,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004202291,"about_ca_topic_score_gemma":0.0001628512,"domain_scores_codex":[0.9995075,0.00005041324,0.0001245937,0.0001837606,0.000049122,0.00008464318],"domain_scores_gemma":[0.9996148,0.00002395692,0.00006783819,0.0001695625,0.00007580829,0.00004797086],"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":[0.00005347165,0.00002682519,0.00465529,0.00001691562,0.00001690724,1.112177e-7,0.0001895108,0.000125955,0.9780924,0.004311441,0.00001079991,0.01250031],"study_design_scores_gemma":[0.0009065959,0.0003314711,0.04384305,0.00001447626,0.00005543912,0.00001329729,0.0003081062,0.08752634,0.8586467,0.006951494,0.001081924,0.0003211169],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9734779,0.0002621879,0.02570393,0.00003615575,0.00009488397,0.00008607595,0.00003388726,0.000006765581,0.0002982043],"genre_scores_gemma":[0.7010313,0.00001148433,0.2986821,0.00006556483,0.00004119292,0.000004195942,0.00007231825,0.000007423671,0.00008441258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2729782,"threshold_uncertainty_score":0.3279611,"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."}}