{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003085283,0.0001697622,0.0002170287,0.00006142253,0.0001424912,0.00001494664,0.0001549406,0.0001677887,0.00001931281],"category_scores_gemma":[0.0007096007,0.0001805213,0.00007417468,0.0001084488,0.0000416909,0.000004192238,0.0001364836,0.00008480724,0.00002038595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000136371,"about_ca_system_score_gemma":0.0001187765,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001206323,"about_ca_topic_score_gemma":0.0001313854,"domain_scores_codex":[0.9985586,0.00007327218,0.0004663486,0.0003351023,0.0002262211,0.0003404571],"domain_scores_gemma":[0.9990997,0.00007017332,0.0002244153,0.000332382,0.0002123423,0.00006099585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002063263,0.0001711151,0.8618397,0.00004664926,0.0003053523,0.00009439599,0.00136078,0.001601827,0.1313353,0.00002314661,0.003173666,0.00002743783],"study_design_scores_gemma":[0.002770586,0.000731991,0.1925495,0.0001066254,0.0002438999,0.0003940481,0.00417993,0.0007683011,0.6311831,0.0008267396,0.1643904,0.001854853],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925261,0.002995993,0.00004027868,0.0002694739,0.0001529455,0.0001714545,0.00001613254,0.00001748892,0.003810161],"genre_scores_gemma":[0.9927214,0.001886454,0.001778353,0.0004242832,0.0003393944,0.00003829993,0.0001117705,0.0000291381,0.002670853],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6692902,"threshold_uncertainty_score":0.7361443,"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."}}