{"id":"W2014606320","doi":"10.1126/science.1136678","title":"Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes","year":2007,"lang":"en","type":"article","venue":"Science","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1782,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Wellcome Trust","keywords":"Copy-number variation; International HapMap Project; Single-nucleotide polymorphism; Biology; Genetics; Phenotype; Genetic variation; Structural variation; Genetic association; Gene; Genome-wide association study; Variation (astronomy); Genome; 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":[0.001663022,0.0002797364,0.0004361976,0.001412452,0.0001413,0.0005622591,0.0003438975,0.000375213,0.001831791],"category_scores_gemma":[0.006579529,0.0001558389,0.0002604473,0.0007491301,0.0006066346,0.00040235,0.0004679802,0.00040536,0.000353657],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001118138,"about_ca_system_score_gemma":0.0001118478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004538147,"about_ca_topic_score_gemma":0.0005105459,"domain_scores_codex":[0.9973105,0.001066942,0.0001659869,0.0005619072,0.0007278572,0.0001668375],"domain_scores_gemma":[0.9939593,0.004070427,0.0006538195,0.0006690461,0.0003683614,0.0002789776],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001758738,0.0000819456,0.4808705,0.0001213048,0.0007108973,0.001053005,0.0001727346,0.001327462,0.4688897,0.0007548832,0.0001966134,0.0440624],"study_design_scores_gemma":[0.00001054693,0.0002875135,0.9802802,0.00000655189,0.0001694441,0.001562038,0.00005887761,0.001799843,0.01449177,0.0006559818,0.0006608475,0.00001624019],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933875,0.001787925,0.002401709,0.0001532935,0.00002048149,0.0000074114,0.0003560837,0.00003075563,0.001854818],"genre_scores_gemma":[0.9980378,0.0003603693,0.0006148687,0.00005927043,0.00002755784,0.000008897016,0.0003878894,0.00002317175,0.0004801328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001831791,"threshold_uncertainty_score":0.008795023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006862927641447027,"score_gpt":0.2686200147073512,"score_spread":0.2617570870659042,"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."}}