Eugene J. Gardner

1 month ago | cell.com | Naomi Wilcox |Jonathan P Tyrer |Joe Dennis |Xin Yang |John Perry |Eugene J. Gardner | +1 more

Keywordsheritabilitygeneticscancerrare variantsexomeburdenprotein-truncating variantsIntroductionGenome-wide association studies (GWASs) have been highly successful at identifying common variants associated with disease. Increasingly, association studies are being extended to study rare variants using next-generation sequencing methods.

Jun 12, 2024 | nature.com | Aoxing Liu |Giulio Genovese |Yajie Zhao |Matti Pirinen |Xiaoxi Liu |Bryan R. Gorman | +15 more

AbstractMosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals1,2, but little is known about its genetic determinants or phenotypic consequences. Here, to address this, we used data from 883,574 female participants across 8 biobanks; 12% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an increased risk of myeloid and lymphoid leukaemias.

Sep 26, 2023 | nature.com | Eugene J. Gardner |Heiko Becher |Sabine Behrens |Thilo Dörk |Pascal Guénel |SGBCC Investigators | +13 more

Correction to: Nature Genetics https://doi.org/10.1038/s41588-023-01466-z, published online 17 August 2023. In the version of the article initially published, in the sentence in the Abstract now reading “Associations were also observed for LZTR1, ATRIP and BARD1 with P < 1 × 10−4”, “ATRIP” appeared incorrectly as “ATR”. This has now been corrected in the PDF and HTML versions of the article.

Aug 17, 2023 | nature.com | Eugene J. Gardner |Heiko Becher |Sabine Behrens |Thilo Dörk |Pascal Guénel |Jingmei Li | +14 more

AbstractLinkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls.

Jun 22, 2023 | nature.com | Saleh Shekari |Stasa Stankovic |Eugene J. Gardner |Gareth Hawkes |Katherine A. Kentistou |Robin Beaumont | +6 more

Author notesThese authors contributed equally: Saleh Shekari, Stasa Stankovic, John R. B. Perry, Anna Murray. Authors and AffiliationsDepartment of Clinical and Biomedical Sciences, University of Exeter, Exeter, UKSaleh Shekari, Gareth Hawkes, Robin N. Beaumont, Andrew R. Wood, Caroline F. Wright, Michael N. Weedon, Katherine S. Ruth & Anna MurraySchool of Public Health, Faculty of Medicine, University of Queensland, Brisbane, Queensland, AustraliaSaleh Shekari & Gita D.