{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002034169,0.001223713,0.001174593,0.003015686,0.0007286737,0.0009484239,0.001159503,0.0007725883,0.006768219],"category_scores_gemma":[0.002075608,0.0007321903,0.001645525,0.001236939,0.001011472,0.0004383792,0.001609338,0.001966306,0.0007166738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004933284,"about_ca_system_score_gemma":0.0003953699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001331634,"about_ca_topic_score_gemma":0.002952433,"domain_scores_codex":[0.9985093,0.0004539505,0.00009461505,0.0005960108,0.0001930567,0.0001530069],"domain_scores_gemma":[0.9972489,0.001778423,0.000316176,0.0003837454,0.00006820871,0.0002044162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0007885178,0.0002072869,0.007973668,0.00008614666,0.0001633277,0.0002675594,0.0001331817,0.001310475,0.9679757,0.004999707,0.0001718023,0.01592272],"study_design_scores_gemma":[0.0006125454,0.0008351589,0.1953418,0.00008826324,0.0007981825,0.002691126,0.0001396679,0.03475812,0.7448478,0.009889344,0.00979852,0.0001995069],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8211911,0.0005098325,0.1700513,0.0003775782,0.0001132511,0.000151061,0.002327086,0.001201629,0.004077038],"genre_scores_gemma":[0.9259948,0.000282634,0.06865688,0.0001814843,0.00005223269,0.0001750335,0.001700702,0.0004088597,0.002547445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006768219,"threshold_uncertainty_score":0.02264196,"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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