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Multi-omics analysis identifies CpGs near G6PC2 mediating the effects of genetic variants on fasting glucose

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Genetic effects on the timing of parturition and links to fetal birth weightPreprint

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Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associationsPreprint

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Genome-wide fine-mapping improves identification of causal variants

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Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization

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Identification of candidate genes associated with carcass component weights in commercial crossbred pigs through a combined GWAS approach

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Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine

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The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders

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A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer

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Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias

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Gaining new insights into the etiology of ulcerative colitis through a cross-tissue transcriptome-wide association study

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Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage

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Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan

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Genetic study of intrahepatic cholestasis of pregnancy in Chinese women unveils East Asian etiology linked to historic HBV epidemic

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Genomic determinants of biological age estimated by deep learning applied to retinal images

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Polygenic modifiers impact penetrance and expressivity in telomere biology disorders

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Contribution of Large Region Joint Associations to Complex Traits Genetics

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Variants associated with HHIP expression have sex-differential effects on lung function

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sumSTAAR: A flexible framework for gene-based association studies using GWAS summary statistics

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A Unified Set-Based Test with Adaptive Filtering for Gene–Environment Interaction Analyses

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Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations

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Genomic evaluation of circulating proteins for drug target characterisation and precision medicinePreprint

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Mendelian Randomization Methods for Causal Inference: Estimands, Identification and Inference

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Genome-wide associations of structural variants with human traits through imputation from long-read assemblies

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Branched chain amino acids harbor distinct and often opposing effects on health and disease

Avery, C. L., Howard, A. G., Lee, H., Downie, C. G., Lee, M. P., Koenigsberg, S. H., Ballou, A. F., Preuss, M. H., Raffield, L. M., Yarosh, R., et al. (2023) · Communications Medicine · doi:10.1038/s43856-023-00382-x · Cited by 12

Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression

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Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study

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Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

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Genome-wide association study of idiopathic pulmonary fibrosis susceptibility using clinically curated European ancestry datasets

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Cross‐sectional study of plasma phosphorylated tau 217 in persons without dementia

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Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

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Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus

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Statins and risk of venous thromboembolic diseases: A two-sample mendelian randomization study

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Trumpet plots: visualizing the relationship between allele frequency and effect size in genetic association studies

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Inflammatory arthritis and eye diseases: a Mendelian randomization study

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Genetic evidence for serum amyloid P component as a drug target in neurodegenerative disorders

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Informative SNPs Selection Based on Two-Locus and Multilocus Linkage Disequilibrium: Criteria of Max-Correlation and Min-Redundancy

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On the reconciliation of missing heritability for genome-wide association studies

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A Selection Operator for Summary Association Statistics Reveals Allelic Heterogeneity of Complex Traits

Zheng, N., Lee, Y., Joshi, P. K., Wilson, J. F., Yudi Pawitan, Y., & Shen, X. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.027 · Cited by 10

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic RegulationPreprint

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Genome-wide identification of cis DNA methylation quantitative trait loci in three Southeast Asian Populations

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Meta-Analyses of Splicing and Expression Quantitative Trait Loci Identified Susceptibility Genes of Glioma

Patro, C. P. K., Nousome, D., (GICC), T. G. I. C. C. S., & Lai, R. K. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.609657 · Cited by 9

Bayesian Structured Sparsity from Gaussian FieldsPreprint

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A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin

Sarsani, V., Brotman, S. M., Yin, X., Silva, L. F., Laakso, M., & Spracklen, C. N. (2023) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2023.100252 · Cited by 13

Uncovering the architecture of selection in two Bos taurus cattle breeds

Rowan, T. N., Schnabel, R. D., & Decker, J. E. (2024) · Evolutionary Applications · doi:10.1111/eva.13666 · Cited by 10

Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants

Rahman, M. S., Harrison, E., Biggs, H., Seikus, C., Elliott, P., Breen, G. D., Kingston, N., Bradley, J. R., Hill, S. M., Tom, B. D. M., et al. (2024) · Nature Medicine · doi:10.1038/s41591-024-02960-5 · Cited by 15

Multitrait Genetic Analysis Identifies Novel Pleiotropic Loci for Depression and Schizophrenia in East Asians

Song, Y., Li, L., Jiang, Y., Peng, B., Jiang, H., Chao, Z., & Chang, X. (2024) · Schizophrenia Bulletin · doi:10.1093/schbul/sbae145 · Cited by 10

Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration

Ahmad, S., Imtiaz, M. A., Mishra, A., Wang, R., Herrera-Rivero, M., Bis, J. C., Fornage, M., Roshchupkin, G. V., Hofer, E., Logue, M. W., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-06804-3 · Cited by 11

A proteome-wide association study identifies putative causal proteins for breast cancer risk

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Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function

Valo, E., Richmond, A., Mutter, S., Dahlström, E. H., Campbell, A., Porteous, D. J., Wilson, J. F., FinnDiane Study Group, Mutter, S., Groop, P., et al. (2025) · Nature Communications · doi:10.1038/s41467-024-55182-1 · Cited by 11

Cross-ancestry analyses of Chinese and European populations reveal insights into the genetic architecture and disease implication of metabolites

Lin, C., Xia, M., Dai, Y., Huang, Q., Sun, Z., Zhang, G., Luo, R., Peng, Q., Li, J., Wang, X., et al. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100810 · Cited by 11

Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction

Xiong, Z., Li, Y., Liu, X., Lu, H., Hysi, P. G., Pardo, L. M., Uitterlinden, A. G., Rivadeneira, F., Ikram, M. A., Ghanbari, M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61761-7 · Cited by 13

Identification of a genomic region containing genes involved in resistance to four pathotypes of Plasmodiophora brassicae in Brassica rapa turnip ECD02

Rahaman, M., Strelkov, S. E., Hu, H., Gossen, B. D., & Yu, F. (2022) · The Plant Genome · doi:10.1002/tpg2.20245 · Cited by 10

BICOSS: Bayesian iterative conditional stochastic search for GWAS

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An unbiased kinship estimation method for genetic data analysis

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Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene

Tsai, M., Hsu, C.-H., Chu, S., Roy‐Gagnon, M., & Lin, S. (2023) · Journal of Human Genetics · doi:10.1038/s10038-023-01124-6 · Cited by 10

Using encrypted genotypes and phenotypes for collaborative genomic analyses to maintain data confidentiality

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Femoral neck width genetic risk score is a novel independent risk factor for hip fractures

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A Whole‐Genome Simulator Capable of Modeling High‐Order Epistasis for Complex Disease

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Combination of mouse models and genomewide association studies highlights novel genes associated with human kidney function

Jing, J., Pattaro, C., Hoppmann, A., Okada, Y., Fox, C. S., & Köttgen, A. (2016) · Kidney International · doi:10.1016/j.kint.2016.04.004 · Cited by 10

Targeted sequencing of chromosome 15q25 identified novel variants associated with risk of lung cancer and smoking behavior in Chinese

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A generalized model for combining dependent SNP-level summary statistics and its extensions to statistics of other levels

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A conditional gene-based association framework integrating isoform-level eQTL data reveals new susceptibility genes for schizophrenia

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Genetic architecture modulates diet-induced hepatic mRNA and miRNA expression profiles in Diversity Outbred mice

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Combining Sparse Group Lasso and Linear Mixed Model Improves Power to Detect Genetic Variants Underlying Quantitative Traits

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Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratificationPreprint

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Mapping genetic determinants of 184 circulating proteins in 26,494 individuals to connect proteins and diseases

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Genome-wide association study of liver fat, iron, and extracellular fluid fraction in the UK BiobankPreprint

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Advances and challenges in quantitative delineation of the genetic architecture of complex traits

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Ancestral diversity in lipoprotein(a) studies helps address evidence gaps

Lee, M. P., Dimos, S. F., Raffield, L. M., Wang, Z., Ballou, A. F., Downie, C. G., Arehart, C. H., Correa, A., de Vries, P. S., Du, Z., et al. (2023) · Open Heart · doi:10.1136/openhrt-2023-002382 · Cited by 9

Integrating meta‐analysis of genome‐wide association study with Pig Genotype‐Tissue Expression resources uncovers the genetic architecture for age at first farrowing in pigs

Lin, Q., Feng, X., Li, T., Pan, X., Diao, S., Gao, Y., Yuan, X., Li, J., Ding, X., & Zhang, Z. (2024) · Animal Research and One Health · doi:10.1002/aro2.62 · Cited by 9

Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta‐Analyses

Zhu, C., Han, Y., Byun, J., Xiao, X., Rothwell, S., Miller, F. W., Lundberg, I. E., Gregersen, P. K., Vencovský, J., Shaw, V. R., et al. (2024) · Arthritis & Rheumatology · doi:10.1002/art.43088 · Cited by 9

Integrating electronic health records and GWAS summary statistics to predict the progression of autoimmune diseases from preclinical stages

Wang, C., Markus, H., Diwadkar, A. R., Khunsriraksakul, C., Carrel, L., Li, B., Zhong, X. Y., Wang, X., Zhan, X., Foulke, G., et al. (2025) · Nature Communications · doi:10.1038/s41467-024-55636-6 · Cited by 9

Computational and functional prioritization identifies genes that rescue behavior and reduce tau protein in fly and human cell models of Alzheimer disease

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Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets

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Identification of genetically predicted DNA methylation markers associated with non–small cell lung cancer risk among 34,964 cases and 448,579 controls

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Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes

Ping, J., Jia, G., Cai, Q., Guo, X., Tao, R., Ambrosone, C. B., Huo, D., Ambs, S., Barnard, M. E., Chen, Y., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-47650-5 · Cited by 10

Genetic dissection of yield traits in super hybrid rice Xieyou9308 using both unconditional and conditional genome-wide association mapping

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PolyQTL: Bayesian multiple eQTL detection with control for population structure and sample relatedness

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A Novel Approach to Detecting Epistasis using Random Sampling Regularisation

Hind, J., Lisboa, P. J. G., Hussain, A. J., & Al‐Jumeily, D. (2019) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2019.2948330 · Cited by 9

Association between Circulating Antioxidants and Longevity: Insight from Mendelian Randomization Study

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Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics

Lu, T., Forgetta, V., Greenwood, C. M. T., & Richards, J. B. (2020) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.4632 · Cited by 11

Sex differences in multilayer functional network topology over the course of aging in 37543 UK Biobank participants

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Genome-wide imaging association study implicates functional activity and glial homeostasis of the caudate in smoking addiction

Qian, D. C., Molfese, D. L., Jin, J. L., Titus, A., He, Y., Li, Y., Vaissié, M., Viswanath, H., Baldwin, P. R., Krahe, R., et al. (2017) · BMC Genomics · doi:10.1186/s12864-017-4124-5 · Cited by 10

The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects

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Quantification of genetic components of population differentiation in UK Biobank traits reveals signals of polygenic selectionPreprint

Liu, X., Loh, P., O’Connor, L. J., Gazal, S., Schoech, A. P., Maier, R. M., Patterson, N. J., & Price, A. L. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/357483 · Cited by 8

Prediction of Phenotype from DNA Variants

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Genome-wide association and Mendelian randomization analysis prioritizes bioactive metabolites with putative causal effects on common diseasesPreprint

Qin, Y., Méric, G., Long, T., Watrous, J. D., Burgess, S., Havulinna, A. S., Ritchie, S. C., Brożyńska, M., Jousilahti, P., Perola, M., et al. (2020) · medRxiv · doi:10.1101/2020.08.01.20166413 · Cited by 10

Coding and regulatory variants affect serum protein levels and common diseasePreprint

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GWAS and meta-analysis identifies multiple new genetic mechanisms underlying severe Covid-19Preprint

Pairo‐Castineira, E., Rawlik, K., Klarić, L., Kousathanas, A., Richmond, A., Millar, J. E., Russell, C. D., Malinauskas, T., Thwaites, R. S., Stuckey, A., et al. (2022) · medRxiv · doi:10.1101/2022.03.07.22271833 · Cited by 9

A genome-wide association analysis of 2,622,830 individuals reveals new pathogenic pathways in gout.Preprint

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KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies

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of ANthropometric Traits (GIANT) Consortium4, DIAbetes Genetics Replication And Meta-

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A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability

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Conditional analysis of multiple quantitative traits based on marginal GWAS summary statistics

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Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

Yengo, L., Sidorenko, J., Kemper, K. E., Zheng, Z., Wood, A. R., Weedon, M. N., Frayling, T. M., Hirschhorn, J. N., Yang, J., & Visscher, P. M. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy271 · Cited by 2,368

Multivariate Analysis of Anthropometric Traits Using Summary Statistics of Genome-Wide Association Studies from GIANT Consortium

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