The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

Diabetes · Oct 29, 2026Peer-reviewedGenetic & Genomic Medicine

Melanoma germline genetics: immune, cancer driver, and Wnt signaling genes

G J M Shanika R Jayasinghe, Jianxin Shi, Rohit Thakur, Rebecca Ivy Hartman, Huanwei Wang, Phuc H. Hoang, Daniel R. Dochtermann, Samuel Anyaso-Samuel, Mathias Seviiri, Quan Hoang Nguyen, P. Prakrithi, Thi-Van-Trinh Tran, Xiaoyu Wang, Mai Xu, Xing Hua, , Nhan Do

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

medRxiv · Oct 15, 2026 · PreprintGenetic & Genomic Medicine

Triglyceride Polygenic Score Identifies Differential Bleeding and Cardiovascular Risk with Aspirin in Primary Prevention

Peter Fransquet, Chenglong Yu, C. Tran, S. Hussain, C. Bousman, M. Nelson, A. Tonkin, JJ McNeil, Paul A Lacaze

This paper finds that a triglyceride-related polygenic score modifies aspirin's effects on bleeding and cardiovascular events in older adults, with different outcomes based on genetic risk profiles.

Heart Lung and Circulation · Jul 30, 2026Peer-reviewedGenetic & Genomic Medicine

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort

Eloise C. Watson, Gordon Qian, Shyamsundar Ravishankar, Matthew Hobbs, Joseph Copty, Chenglong Yu, Sarah Kummerfeld, Christina Liang, Paul A Lacaze, Ryan L. Davis, Carolyn M. Sue

The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.

medRxiv · Jun 29, 2026 · PreprintGenetic & Genomic Medicine

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint

Eloise C. Watson, Gordon Qian, Shyamsundar Ravishankar, Matthew Hobbs, Joseph Copty, Chenglong Yu, Sarah Kummerfeld, Christina Liang, Paul A Lacaze, Ryan L. Davis, Carolyn M. Sue

The paper assesses mitochondrial disease variants and genome constraint in healthy older adults, finding no significant phenotype associations but suggesting constraint measures may relate to aging biomarkers.

medRxiv · Jun 29, 2026 · PreprintGenetic & Genomic Medicine

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

Mengyu Zhang, Michael R. Brown, Amy R. Bentley, Thomas W. Winkler, Raymond Noordam, Pavithra Nagarajan, Bohong Guo, Songmi Lee, Karen Schwander, Wenyi Wang, Kenneth E. Westerman, Jeffrey R. O’Connell, Farah Ammous, Anna D. Argoty-Pantoja, Traci M. Bartz, , Bertha Hidalgo

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

medRxiv · Oct 6, 2025 · PreprintGenetic & Genomic Medicine

Detecting genotype-population interaction effects by ancestry principal components

Chenglong Yu, Guiyan Ni, Julius H. J. van der Werf, Sang Lee

The paper introduces a method to detect genotype-population interaction effects using ancestry principal components to analyze genetic heterogeneity across populations.

Frontiers in Genetics · Apr 21, 2020Peer-reviewedGenetics