The paper identifies shared genetic architecture across different types of clonal hematopoiesis and finds that overlapping mutations increase hematological malignancy risk.

Nature Communications · Sep 8, 2023Peer-reviewedGenetics

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

Massively parallel reporter assays combined with cell-type specific eQTL informed multiple melanoma loci and identified a pleiotropic function of HIV-1 restriction gene, MX2, in melanoma promotion

Jiyeon Choi, Tongwu Zhang, Andrew H. Vu, Julien Ablain, Matthew M. Makowski, Leandro Machado Colli, Mai Xu, Rebecca C. Hennessey, Jinhu Yin, Harriet Rothschild, Cathrin Gräwe, Michael A. Kovacs, Karen M. Funderburk, Myriam Brossard, John Taylor, , Kevin M. Brown

The paper identifies multiple melanoma susceptibility genes and variants by integrating MPRA with eQTL data, revealing MX2's role in melanoma promotion.

Nature Communications · Jun 1, 2020Peer-reviewedGenomics