{"id":"W4399300066","doi":"10.1038/s41588-024-01771-1","title":"Improved functional mapping of complex trait heritability with GSA-MiXeR implicates biologically specific gene sets","year":2024,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"David Geffen School of Medicine, University of California, Los Angeles; Universidad de Granada; NIH Clinical Center; National Heart, Lung, and Blood Institute; National Institute on Aging; Sorbonne Université; State University of New York Upstate Medical University; Servicio Gallego de Salud; University of Sydney; National Institute of Mental Health; Helse Sør-Øst RHF; Medical Research Council; NIHR Maudsley Biomedical Research Centre; Centro de Investigación Biomédica en Red de Salud Mental; Department of Psychology, Harvard University; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Veterans Affairs San Diego Healthcare System; National Taiwan University Hospital; University of California, Los Angeles; University of South Australia; Graduate School of Frontier Sciences, University of Tokyo; Hebrew University of Jerusalem; Université de Paris; Institut National de la Santé et de la Recherche Médicale; Sun Yat-sen University; Humboldt-Universität zu Berlin; H. Lundbeck A/S; Nasjonalforeningen for Folkehelsen; University of Chinese Academy of Sciences; Centre d'Imagerie BioMédicale; Stony Brook University; Pomorski Uniwersytet Medyczny W Szczecinie; Rheinische Friedrich-Wilhelms-Universität Bonn; Massachusetts General Hospital; University of Colorado Boulder; Universitas Indonesia; University of California, San Diego; Universitetet i Oslo; National and Kapodistrian University of Athens; Universitetet i Bergen; H2020 Marie Skłodowska-Curie Actions; McGill University; Samfundet Folkhälsan; Terveyden ja hyvinvoinnin laitos; Universitat de Barcelona; King's College London; Centre National de la Recherche Scientifique; Medizinische Universität Wien; Euskal Herriko Unibertsitatea; Department of Psychiatry, Columbia University; Universität Wien; Helsingin Yliopisto; Chonnam National University; University of Nicosia; South Australian Health and Medical Research Institute; Universitair Medisch Centrum Utrecht; Chinese Academy of Sciences; Statens Serum Institut; Janssen Research and Development; RIKEN; Universität Heidelberg; Universiteit van Amsterdam; Norges Forskningsråd; University of Leicester; Université de Rouen; National Taiwan University; South London and Maudsley NHS Foundation Trust; University of Tokyo; National University of Singapore; NorthShore University HealthSystem; European Commission; Institute of Genetics; Broad Institute; National Institute on Drug Abuse; Monash University; VA Greater Los Angeles Healthcare System; University College Cork; Sunovion; University of New South Wales; Universiteit Maastricht; F. Hoffmann-La Roche; Euroscience; National Institutes of Health; Syracuse University; University of Melbourne; University of North Carolina at Chapel Hill; Harvard University; University of Pennsylvania; National Research Centre; Philipps-Universität Marburg; University of Chicago; Horizon 2020 Framework Programme; Région Normandie; Fujita Health University; Universiteit Utrecht; Universidad de Oviedo; Universität Basel; National Institute for Health and Care Research; State University of New York; Virginia Commonwealth University; Yale University","keywords":"Biology; Linkage disequilibrium; Heritability; Computational biology; Genetics; Gene; Quantitative trait locus; Genome-wide association study; Genetic association; Trait; Gene regulatory network; Allele; Single-nucleotide polymorphism; Haplotype; Gene expression; Genotype; Computer science","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000335059,0.0002282964,0.0002813148,0.00005429578,0.00007547688,0.00002230088,0.0002103169,0.0006169789,0.0000964248],"category_scores_gemma":[0.00006588439,0.0001746654,0.000147253,0.0002124448,0.0001828056,0.000002166155,0.0001073069,0.000313485,0.000005061292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003140038,"about_ca_system_score_gemma":0.0001080573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005457938,"about_ca_topic_score_gemma":0.00001800486,"domain_scores_codex":[0.998464,0.00009083045,0.0003833993,0.0006024051,0.0001274836,0.0003319084],"domain_scores_gemma":[0.9991301,0.00005982941,0.0001071871,0.0003984259,0.0002206459,0.00008382882],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0000775341,0.0000819792,0.03681469,0.00005274636,0.000212538,0.000002166861,0.00004338547,0.0002541371,0.9493769,0.00008107663,0.00430346,0.008699358],"study_design_scores_gemma":[0.0004776954,0.0006552839,0.8604069,0.00001640285,0.00004465077,0.00004995189,0.00009130881,0.001073675,0.04012777,0.0009273448,0.09574378,0.0003852425],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977006,0.008426121,0.01276136,0.000535477,0.0002767416,0.0002735138,0.0002388079,0.0000321968,0.0004497526],"genre_scores_gemma":[0.9666042,0.0004658689,0.03148956,0.0002903965,0.0003226886,0.0000266007,0.0006511007,0.0000268631,0.0001227154],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9092492,"threshold_uncertainty_score":0.7122648,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02437176436075453,"score_gpt":0.2664932680360633,"score_spread":0.2421215036753087,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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