[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic

EA Boyle, YI Li, JK Pritchard - Cell, 2017 - cell.com
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

B Piasecka, D Duffy, A Urrutia… - Proceedings of the …, 2018 - National Acad Sciences
The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …

[HTML][HTML] Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

S Kim-Hellmuth, M Bechheim, B Pütz… - Nature …, 2017 - nature.com
The immune system plays a major role in human health and disease, and understanding
genetic causes of interindividual variability of immune responses is vital. Here, we isolate …

Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

DA Knowles, CK Burrows, JD Blischak, KM Patterson… - Elife, 2018 - elifesciences.org
Anthracycline-induced cardiotoxicity (ACT) is a key limiting factor in setting optimal
chemotherapy regimes, with almost half of patients expected to develop congestive heart …

Impact of regulatory variation across human iPSCs and differentiated cells

NE Banovich, YI Li, A Raj, MC Ward… - Genome …, 2018 - genome.cshlp.org
Induced pluripotent stem cells (iPSCs) are an essential tool for studying cellular
differentiation and cell types that are otherwise difficult to access. We investigated the use of …

Incorporation of biological knowledge into the study of gene-environment interactions

MD Ritchie, JR Davis, H Aschard… - American journal of …, 2017 - academic.oup.com
A growing knowledge base of genetic and environmental information has greatly enabled
the study of disease risk factors. However, the computational complexity and statistical …

Analysis of transcriptional changes in the immune system associated with pubertal development in a longitudinal cohort of children with asthma

JA Resztak, J Choe, S Nirmalan, J Wei… - Nature …, 2023 - nature.com
Puberty is an important developmental period marked by hormonal, metabolic and immune
changes. Puberty also marks a shift in sex differences in susceptibility to asthma. Yet, little is …

Chromatin accessibility profiling uncovers genetic- and T2D disease state-associated changes in cis-regulatory element use in human islets

S Khetan, R Kursawe, A Youn, N Lawlor, EM Campos… - BioRxiv, 2017 - biorxiv.org
Genetic and environmental factors both contribute to islet dysfunction and failure, resulting in
type 2 diabetes (T2D). The islet epigenome integrates these cues and can be remodeled by …

Computational analysis of enhancer deregulation in Multiple Myeloma

J Alvarez Benayas - 2020 - etheses.whiterose.ac.uk
Gene regulation is a complex process, which dictates how the body reacts to different
situations through gene expression. Enhancers are sequences of a few hundred base pairs …