Sex differences in cancer mechanisms

JB Rubin, JS Lagas, L Broestl, J Sponagel… - Biology of sex …, 2020 - Springer
We now know that cancer is many different diseases, with great variation even within a
single histological subtype. With the current emphasis on developing personalized …

The role of sex in the genomics of human complex traits

EA Khramtsova, LK Davis, BE Stranger - Nature Reviews Genetics, 2019 - nature.com
Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

JS Hawe, R Wilson, KT Schmid, L Zhou… - Nature …, 2022 - nature.com
We determined the relationships between DNA sequence variation and DNA methylation
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …

[HTML][HTML] Genome-wide sex and gender differences in cancer

CM Lopes-Ramos, J Quackenbush… - Frontiers in oncology, 2020 - frontiersin.org
Despite their known importance in clinical medicine, differences based on sex and gender
are among the least studied factors affecting cancer susceptibility, progression, survival, and …

Sparse PCA corrects for cell type heterogeneity in epigenome-wide association studies

E Rahmani, N Zaitlen, Y Baran, C Eng, D Hu… - Nature …, 2016 - nature.com
In epigenome-wide association studies (EWAS), different methylation profiles of distinct cell
types may lead to false discoveries. We introduce ReFACTor, a method based on principal …

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

GE Thorlacius, A Björk… - Nature Reviews …, 2023 - nature.com
In primary Sjögren syndrome (pSS), chronic inflammation of exocrine glands results in tissue
destruction and sicca symptoms, primarily of the mouth and eyes. Fatigue, arthralgia and …

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

CC Homan, MW Drazer, K Yu, DM Lawrence… - Blood …, 2023 - ashpublications.org
Individuals with germ line variants associated with hereditary hematopoietic malignancies
(HHMs) have a highly variable risk for leukemogenesis. Gaps in our understanding of …

Characterising sex differences of autosomal DNA methylation in whole blood using the Illumina EPIC array

OA Grant, Y Wang, M Kumari, NR Zabet… - Clinical epigenetics, 2022 - Springer
Background Sex differences are known to play a role in disease aetiology, progression and
outcome. Previous studies have revealed autosomal epigenetic differences between males …

Quality control and analytic best practices for testing genetic models of sex differences in large populations

EA Khramtsova, MA Wilson, J Martin, SJ Winham… - Cell, 2023 - cell.com
Phenotypic sex-based differences exist for many complex traits. In other cases, phenotypes
may be similar, but underlying biology may vary. Thus, sex-aware genetic analyses are …

Cell-type-specific resolution epigenetics without the need for cell sorting or single-cell biology

E Rahmani, R Schweiger, B Rhead, LA Criswell… - Nature …, 2019 - nature.com
High costs and technical limitations of cell sorting and single-cell techniques currently
restrict the collection of large-scale, cell-type-specific DNA methylation data. This, in turn …