{"id":"W4220928904","doi":"10.1101/2022.03.25.485726","title":"Mobile elements in human population-specific genome and phenotype divergence","year":2022,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Chromosomal and Genetic Variations","field":"Agricultural and Biological Sciences","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Common Fund; National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Human Genome Research Institute; National Institute on Drug Abuse; National Heart, Lung, and Blood Institute; National Institute of Mental Health; Medical Research Council; National Institutes of Health; Institute of Medical Science, University of Tokyo; NIH Office of the Director; Japan Society for the Promotion of Science; University of Tokyo; Simons Foundation Autism Research Initiative; RIKEN; Japan Agency for Medical Research and Development; McGill University","keywords":"Biology; Expression quantitative trait loci; Genome-wide association study; Genetics; Epigenomics; Population; Quantitative trait locus; Genetic association; Computational biology; Human genome; Genome; Phenotype; Enhancer; Genotype; Evolutionary biology; Gene; Gene expression; DNA methylation; Single-nucleotide polymorphism; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006047544,0.0001318741,0.0002174868,0.0006362167,0.000182094,0.0003888999,0.0001348123,0.0003482379,0.001349034],"category_scores_gemma":[0.001156284,0.00009100385,0.0001731108,0.0007351481,0.000508839,0.0001994431,0.0003645115,0.0003742686,0.0001268157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001724124,"about_ca_system_score_gemma":0.0001274166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007698947,"about_ca_topic_score_gemma":0.0006988532,"domain_scores_codex":[0.9997476,0.00007528942,0.00001515832,0.00009974713,0.00004277973,0.00001948135],"domain_scores_gemma":[0.9995099,0.0002287817,0.0001394551,0.00005740627,0.00002581191,0.00003860663],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008306809,0.0001004051,0.68878,0.0002355093,0.0005278211,0.001443772,0.001342508,0.01037072,0.2041784,0.0259378,0.001155486,0.06509698],"study_design_scores_gemma":[0.00007338968,0.0002809193,0.9183726,0.00004669935,0.0001846218,0.002042538,0.0006296877,0.01614672,0.02160518,0.03417955,0.00637918,0.00005892674],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858863,0.0006856942,0.01150075,0.0003138702,0.00001315891,0.000007079255,0.0005671043,0.00008968689,0.0009363422],"genre_scores_gemma":[0.9970412,0.0001609519,0.00228648,0.00005277363,0.00001160828,0.000006689282,0.0001857825,0.00001408506,0.0002404238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001349034,"threshold_uncertainty_score":0.004512966,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01794650306859737,"score_gpt":0.2174047441217926,"score_spread":0.1994582410531952,"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."}}