Explanipedia

Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing Open

Yasminka A. Jakubek, Ying Zhou, Adrienne M. Stilp, Jason Bacon, Justin Wong , et al. · 2025

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

Xihao Li, Corbin Quick, Hufeng Zhou, Sheila M. Gaynor, Yaowu Liu , et al. · 2025

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

Pierrick Wainschtein, Deepti Jain, Zhili Zheng, L. Adrienne Cupples, Aladdin H. Shadyab , et al. · 2025

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program Open

Marsha M. Wheeler, Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter , et al. · 2025

Genome sequencing unveils a regulatory landscape of platelet reactivity Open

Ali R. Keramati, Ming‐Huei Chen, Benjamin A.T. Rodriguez, Lisa R. Yanek, Arunoday Bhan , et al. · 2025

Alzheimer’s Disease-Like Brain Pattern Biomarker: Capturing Risks and Predicting Disease Onset Open

Peter Kochunov, Si Gao, Lauren E. Salminen, Neda Jahanshad, Talia M. Nir , et al. · 2025

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals Open

Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Eric Van Buren, Sara Haidermota , et al. · 2025

This study provides a meta-analysis framework for large-scale whole genome sequence association analyses from diverse population groups, yielding novel rare non-coding variant associations.

Metabolomics Ex/GWAS in the Amish reveals novel insights into cardiometabolic disease pathways Open

Momodou W. Jallow, Gannie Tzoneva, Bin Ye, Joshua Backman, Valentina A. Zavala , et al. · 2025

We conducted an exome and genome-wide association study (Ex/GWAS) of 1,015 metabolites in serum samples from 5,981 Amish adults. We identified 149 functional or likely functional genetic variants, based on CADD scores significantly associa…

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish Open

Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry , et al. · 2025

The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked…

Development and Validation of Polygenic Risk Scores for Blood Pressure Traits in Continental African Populations Open

Ebuka Onyenobi, Michael Zhong, Opeyemi Soremekun, Abram Bunya Kamiza, Palwendé Romuald Boua , et al. · 2025

BACKGROUND: Most polygenic risk scores (PRS) have been developed in European populations, frequently leading to limited transferability across diverse ancestry populations. This study aimed to develop and evaluate PRS for blood pressure (B…

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

Alexander G. Bick, Joshua S. Weinstock, Satish K. Nandakumar, Charles P. Fulco, Erik L. Bao , et al. · 2025

Inherited causes of clonal haematopoiesis in 97,691 whole genomes Open

Alexander G. Bick, Joshua S. Weinstock, Satish K. Nandakumar, Charles P. Fulco, Erik L. Bao , et al. · 2025

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open

Paul S. de Vries, Paula Reventún, Michael R. Brown, Adam S. Heath, Jennifer E. Huffman , et al. · 2025

Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …

Multi-ancestry whole genome sequencing analysis of lean body mass Open

Xiaoyu Zhang, Kuan‐Jui Su, Bodhisattwa Banerjee, Ittai Eres, Yi-Hsiang Hsu , et al. · 2025

Adherence to life’s essential 8 is associated with delayed white matter aging Open

Li Feng, Zhenyao Ye, Yezhi Pan, Rozalina G. McCoy, Braxton D. Mitchell , et al. · 2025

Genome-wide association study and multi-ancestry meta-analysis identify common variants associated with carotid artery intima-media thickness Open

Devendra Meena, Jian Huang, Marjan Zare, Natalie R. Hasbani, BOUA Palwende Romuald , et al. · 2025

Carotid artery intima-media thickness (cIMT) is a measurement of subclinical atherosclerosis that predicts future cardiovascular events, including stroke and myocardial infarction. Genome-wide association studies (GWAS) have identified onl…

Functional vs Structural Cortical Deficit Pattern Biomarkers for Major Depressive Disorder Open

Peter Kochunov, Bhim M. Adhikari, David B. Keator, Daniel Amen, Si Gao , et al. · 2025

Importance Major depressive disorder (MDD) is a severe mental illness characterized more by functional rather than structural brain abnormalities. The pattern of regional homogeneity (ReHo) deficits in MDD may relate to underlying regional…

Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants Open

Yao Hu, Jeff Haessler, Jessica I. Lundin, Burcu F. Darst, Eric A. Whitsel , et al. · 2025

Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants Open

Kruthika Iyer, Shoa L. Clarke, Rodrigo Guarischi‐Sousa, Ketrin Gjoni, Adam S. Heath , et al. · 2025

Background Genome‐wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant‐based genome‐wide association studies improving our u…

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies Open

Xihao Li, Han Chen, Margaret Sunitha Selvaraj, Eric Van Buren, Hufeng Zhou , et al. · 2025

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood Open

Yasminka A. Jakubek, Xiaolong Ma, Adrienne M. Stilp, Fulong Yu, Jason Bacon , et al. · 2025

Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease Open

Guan Wang, Noriyuki Fuku, Eri Miyamoto‐Mikami, Masashi Tanaka, Motohiko Miyachi , et al. · 2025

The genetic underpinnings of elite sprint and power performance remain largely elusive. This study aimed to identify genetic variants associated with this complex trait as well as to understand their functional implications in elite sprint…

Quantile Normative Brain Charts Revealing Heterogeneous Age Effects in Older Adults Open

Zhenyao Ye, Lei Zhang, Yezhi Pan, Jingying Gao, Chixiang Chen , et al. · 2025

Attitudes toward returning pathogenic KCNQ1 variant and uptake of cascade screening in the Amish Open

Yue Guan, Toni I. Pollin, Kristen Wood, Kristin A. Maloney, Alan R. Shuldiner , et al. · 2025

The RoR process was well received, although uptake of beta blockers was low. Cascade testing interest was modest; however, most followed through on testing. These results help to inform strategies to improve cascade testing in this populat…

Adherence to Life’s Essential 8 is associated with delayed white matter aging Open

Li Feng, Zhenyao Ye, Yezhi Pan, Rozalina G. McCoy, Braxton D. Mitchell , et al. · 2024

Importance The American Heart Association introduced Life’s Essential 8 (LE8) as a checklist of healthy lifestyle factors to help older individuals maintain and improve cardiovascular health and live longer. How LE8 can foster healthy brai…

Accelerating Heritability, Genetic Correlation, and Genome‐Wide Association Imaging Genetic Analyses in Complex Pedigrees Open

Brian Donohue, Si Gao, Thomas E. Nichols, Bhim M. Adhikari, Yizhou Ma , et al. · 2024

National and international biobanking efforts led to the collection of large and inclusive imaging genetics datasets that enable examination of the contribution of genetic and environmental factors to human brains in illness and health. Hi…

Randomized evaluation of the loss‐of‐function carboxylesterase 1 (<i>CES1</i>) <span>G143E</span> variant on clopidogrel and ticagrelor pharmacodynamics Open

Joshua P. Lewis, Kathleen A. Ryan, Elizabeth A. Streeten, Hilary B. Whitlatch, Melanie Daue , et al. · 2024

Antiplatelet therapy with a P2Y 12 receptor inhibitor, in combination with aspirin, is standard of care for medical management of patients with coronary artery disease, and flexibility in prescribing options among these medications offers …

Determinants of mosaic chromosomal alteration fitness Open

Yash Pershad, Taralynn Mack, Hannah Poisner, Yasminka A. Jakubek, Adrienne M. Stilp , et al. · 2024

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

Rebecca Keener, Surya B. Chhetri, Carla J. Connelly, Margaret A. Taub, Matthew P. Conomos , et al. · 2024

Rare variant contribution to the heritability of coronary artery disease Open

Ghislain Rocheleau, Shoa L. Clarke, Gaëlle Auguste, Natalie R. Hasbani, Alanna C. Morrison , et al. · 2024

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