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  1. Article

    Open Access

    Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes

    Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere le...

    Rebecca Keener, Surya B. Chhetri, Carla J. Connelly in Nature Communications (2024)

  2. No Access

    Article

    Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification

    Coronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). Identifying genetic risk factors for CAC may point to new therapeutic a...

    Maryam Kavousi, Maxime M. Bos, Hanna J. Barnes in Nature Genetics (2023)

  3. Article

    Author Correction: The power of genetic diversity in genome-wide association studies of lipids

    Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni in Nature (2023)

  4. No Access

    Article

    Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

    Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with c...

    **hao Li, Corbin Quick, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu in Nature Genetics (2023)

  5. No Access

    Article

    A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

    Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV ass...

    Zilin Li, **hao Li, Hufeng Zhou, Sheila M. Gaynor in Nature Methods (2022)

  6. No Access

    Article

    Rare genetic variants explain missing heritability in smoking

    Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contributio...

    Seon-Kyeong Jang, Luke Evans, Allison Fialkowski, Donna K. Arnett in Nature Human Behaviour (2022)

  7. Article

    Open Access

    Whole genome sequence analysis of blood lipid levels in >66,000 individuals

    Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated allel...

    Margaret Sunitha Selvaraj, **hao Li, Zilin Li, Akhil Pampana in Nature Communications (2022)

  8. Article

    Open Access

    A saturated map of common genetic variants associated with human height

    Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...

    Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell in Nature (2022)

  9. Article

    Open Access

    Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

    Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a m...

    Zhe Wang, Andrew Emmerich, Nicolas J. Pillon, Tim Moore, Daiane Hemerich in Nature Genetics (2022)

  10. Article

    Open Access

    Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program

    The genetic determinants of fasting glucose (FG) and fasting insulin (FI) have been studied mostly through genome arrays, resulting in over 100 associated variants. We extended this work with high-coverage who...

    Daniel DiCorpo, Sheila M. Gaynor, Emily M. Russell in Communications Biology (2022)

  11. Article

    Open Access

    Lymphocyte activation gene-3-associated protein networks are associated with HDL-cholesterol and mortality in the Trans-omics for Precision Medicine program

    Deficiency of the immune checkpoint lymphocyte activation gene-3 (LAG3) protein is significantly associated with both elevated HDL-cholesterol (HDL-C) and myocardial infarction risk. We determined the associat...

    Ani Manichaikul, Honghuang Lin, Chansuk Kang, Chaojie Yang in Communications Biology (2022)

  12. Article

    Open Access

    Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels

    Circulating total-tau levels can be used as an endophenotype to identify genetic risk factors for tauopathies and related neurological disorders. Here, we confirmed and better characterized the association of ...

    Chloé Sarnowski, Mohsen Ghanbari, Joshua C. Bis, Mark Logue in Communications Biology (2022)

  13. No Access

    Article

    Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

    Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. ...

    Pierrick Wainschtein, Deepti Jain, Zhili Zheng, L. Adrienne Cupples in Nature Genetics (2022)

  14. Article

    Open Access

    Rare coding variants in RCN3 are associated with blood pressure

    While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, geno...

    Karen Y. He, Tanika N. Kelly, Heming Wang, **g**g Liang, Luke Zhu in BMC Genomics (2022)

  15. No Access

    Article

    The power of genetic diversity in genome-wide association studies of lipids

    Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treat...

    Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni in Nature (2021)

  16. Article

    Open Access

    Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

    Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precis...

    Brian E. Cade, Jiwon Lee, Tamar Sofer, Heming Wang, Man Zhang, Han Chen in Genome Medicine (2021)

  17. Article

    Open Access

    Genome sequencing unveils a regulatory landscape of platelet reactivity

    Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through...

    Ali R. Keramati, Ming-Huei Chen, Benjamin A. T. Rodriguez in Nature Communications (2021)

  18. Article

    Open Access

    Variant-specific inflation factors for assessing population stratification at the phenotypic variance level

    In modern Whole Genome Sequencing (WGS) epidemiological studies, participant-level data from multiple studies are often pooled and results are obtained from a single analysis. We consider the impact of differe...

    Tamar Sofer, **uwen Zheng, Cecelia A. Laurie in Nature Communications (2021)

  19. Article

    Open Access

    Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

    Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now ana...

    Pradeep Natarajan, Akhil Pampana, Sarah E. Graham in Nature Communications (2021)

  20. Article

    Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes

    A Correction to this paper has been published: https://doi.org/10.1038/s41586-021-03280-1.

    Alexander G. Bick, Joshua S. Weinstock, Satish K. Nandakumar, Charles P. Fulco in Nature (2021)

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