{"id":"W2022838867","doi":"10.1371/journal.pgen.1000068","title":"SNPs Meet CNVs in Genome-Wide Association Studies: HGV2007 Meeting Report","year":2008,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation","funders":"National Human Genome Research Institute; Ministerio de Economía y Competitividad","keywords":"Biology; Genetics; Genome-wide association study; Single-nucleotide polymorphism; Copy-number variation; Computational biology; Genome; Gene; Genotype","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":[0.003252147,0.0005087897,0.0006342149,0.00103021,0.0005555972,0.001079158,0.000685394,0.001262037,0.0110724],"category_scores_gemma":[0.004223693,0.0002533015,0.000350871,0.00176182,0.0001723272,0.0004047063,0.0006494824,0.0007011848,0.002235865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004917755,"about_ca_system_score_gemma":0.001056074,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00732317,"about_ca_topic_score_gemma":0.0128582,"domain_scores_codex":[0.9985638,0.0005325146,0.0001391019,0.0002777682,0.0003226358,0.0001641754],"domain_scores_gemma":[0.9978536,0.0007124227,0.0001596096,0.0001760915,0.000628219,0.0004700564],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.009955541,0.0004776097,0.2487298,0.001205319,0.001340973,0.00352859,0.0004014944,0.001447102,0.03318397,0.001399957,0.4995231,0.1988065],"study_design_scores_gemma":[0.001302488,0.0008738738,0.8075931,0.0002558475,0.001389432,0.002427114,0.0004046112,0.001901705,0.01385416,0.001824935,0.1680832,0.0000894242],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7146123,0.02798069,0.01646806,0.02907867,0.007148453,0.001137751,0.1616263,0.00210395,0.03984392],"genre_scores_gemma":[0.8335688,0.004347671,0.01242878,0.002734534,0.003526204,0.0005852336,0.1177902,0.0004340529,0.02458456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0110724,"threshold_uncertainty_score":0.03704083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02763849055596578,"score_gpt":0.2487532281022006,"score_spread":0.2211147375462348,"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."}}