Joe Dennis

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.

Sep 18, 2024 | nature.com | Xin Yang |Joe Dennis |Jonathan P Tyrer |Douglas F. Easton

AbstractThe clinical validity of the multifactorial BOADICEA model for epithelial tubo-ovarian cancer (EOC) risk prediction has not been assessed in a large sample size or over a longer term. We evaluated the model discrimination and calibration in the UK Biobank cohort comprising 199,429 women (733 incident EOCs) of European ancestry without previous cancer history.

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.

Mar 4, 2024 | medrxiv.org | Daniel Barnes |Jonathan P Tyrer |Joe Dennis |Goska Leslie

The authors have declared no competing interest. A complete funding statement can be found in the Acknowledgements and Funding section. I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. YesThe details of the IRB/oversight body that provided approval or exemption for the research described are given below:The UKBiobank data have been used under the access application with ID: 28126.