This study identifies subtype-specific mutational mechanisms and links them to host metabolic factors in endometrial cancer using genomic and transcriptomic data from 440 tumors.

bioRxiv · Apr 7, 2026 · PreprintGenomics

Genome-wide association study meta-analysis identifies susceptibility loci informing Ewing sarcoma etiology and potential mechanisms of risk

Aubrey K. Hubbard, Hélène Neyret‐Kahn, Martina Müller‐Nurasyid, Dominik Löw, Konstantin Strauch, Olivia W. Lee, Andrew R. Raduski, Tianzhong Yang, Weiyin Zhou, Elliot Stratton, Orson Jay, Sandrine Grossetête, Andrew J. Song, Diptavo Dutta, Amy A. Hutchinson, , Mitchell J. Machiela

This study identifies 14 susceptibility loci for Ewing sarcoma through a genome-wide association meta-analysis, revealing genetic interactions with somatic EWSR1::FLI1 fusions.

medRxiv · Feb 9, 2026 · PreprintGenetic & Genomic Medicine

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

Aoxing Liu, Giulio Genovese, Yajie Zhao, Matti Pirinen, Seyedeh Maryam Zekavat, Katherine A. Kentistou, Zhiyu Yang, Kai Fun Yu, Caitlyn Vlasschaert, Xiaoxi Liu, Derek W. Brown, Georgi Hudjashov, Bryan R. Gorman, Joe Dennis, Weiyin Zhou, , Mitchell J. Machiela

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

medRxiv · Jan 28, 2023 · PreprintGenetic & Genomic Medicine

Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns

Henrike Heyne, Juha M Karjalainen, Konrad J. Karczewski, Susanna M. Lemmelä, Weiyin Zhou, FinnGen, Aki Samuli Havulinna, Mitja Kurki, Heidi L. Rehm, Aarno V. Palotie, Mark J. Daly

The paper analyzes homozygous and heterozygous effects of coding variants on disease in 176,899 Finns using EHR data, finding novel associations and challenging traditional dominant/recessive classifications.

medRxiv · Nov 6, 2021 · PreprintGenetic & Genomic Medicine