{"id":"W2046674864","doi":"10.1126/science.1101659","title":"Cis-Acting Regulatory Variation in the Human Genome","year":2004,"lang":"en","type":"review","venue":"Science","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":269,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre","funders":"","keywords":"Linkage disequilibrium; Biology; Genetics; Human genome; Human genetic variation; Genome; Gene; Computational biology; Identification (biology); Regulatory sequence; Genetic variation; Phenotype; Genetic association; Allele; Regulation of gene expression; Haplotype; Single-nucleotide polymorphism; 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":[0.0006002981,0.0006652283,0.001020107,0.0009638513,0.0002328058,0.0006609915,0.0009120378,0.001069993,0.002404753],"category_scores_gemma":[0.0004987486,0.0001820081,0.0002421788,0.001336297,0.0007107706,0.0007568572,0.0004783627,0.00110461,0.002266958],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006482803,"about_ca_system_score_gemma":0.0007995056,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001472794,"about_ca_topic_score_gemma":0.002022776,"domain_scores_codex":[0.9998172,0.0000345158,0.00001560118,0.00005341539,0.00006591563,0.00001340096],"domain_scores_gemma":[0.9998179,0.00008184715,0.00003056498,0.00001146275,0.00003895506,0.00001937228],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005718835,0.00002247206,0.0005979315,0.005035775,0.0000846022,0.0005980834,0.00008747093,0.000589729,0.008009472,0.006025165,0.01591298,0.9629791],"study_design_scores_gemma":[0.00001609828,0.00007535071,0.003099514,0.001567773,0.0001097601,0.003370411,0.0001346145,0.0001374135,0.003221691,0.006251991,0.9819924,0.00002312603],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004394712,0.9959064,0.0008573572,0.0007047292,0.0003364939,0.000004735221,0.00002044312,0.0000252214,0.001705223],"genre_scores_gemma":[0.002872216,0.9942874,0.0006909288,0.0003918909,0.0003084207,0.000007591762,0.00003804801,0.00000235439,0.001401116],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002404753,"threshold_uncertainty_score":0.00804466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04399342549093675,"score_gpt":0.3540617174513139,"score_spread":0.3100682919603771,"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."}}