This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

Genome biology · Dec 27, 2022Peer-reviewedGenetic & Genomic Medicine

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Shweta Ramdas, Jonathan Judd, Sarah E. Graham, Stavroula Kanoni, Yuxuan Wang, Ida L. Surakka, Brandon M. Wenz, Shoa L. Clarke, Alessandra Chesi, Andrew D. Wells, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, , Maria Sabater‐Lleal

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

The American Journal of Human Genetics · Aug 1, 2022Peer-reviewedGenomics

Genetic analysis of functional rare germline variants across 9 cancer types from the DiscovEHR study

Manu Shivakumar, Jason E. Miller, Venkata Ramesh Dasari, Yanfei Zhang, Ming Ta Michael Lee, David J. Carey, Radhika P. Gogoi, Dokyoon Kim

The paper performs a genome-wide rare variant analysis across nine cancer types using germline WES data to identify cancer predisposition genes and pathways.

Cancer Epidemiology Biomarkers & Prevention · Jul 8, 2021Peer-reviewedGenetic & Genomic Medicine