[HTML][HTML] Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations

CE Breeze, E Haugen, A Reynolds, A Teschendorff… - Genome biology, 2022 - Springer
Background Genome-wide association study (GWAS) single nucleotide polymorphisms
(SNPs) are known to preferentially co-locate to active regulatory elements in tissues and cell …

Epigenetic and transcriptional variability shape phenotypic plasticity

S Ecker, V Pancaldi, A Valencia, S Beck, DS Paul - BioEssays, 2018 - Wiley Online Library
Epigenetic and transcriptional variability contribute to the vast diversity of cellular and
organismal phenotypes and are key in human health and disease. In this review, we …

[HTML][HTML] Alveolar macrophages in early stage COPD show functional deviations with properties of impaired immune activation

K Baßler, W Fujii, TS Kapellos, E Dudkin… - Frontiers in …, 2022 - frontiersin.org
Despite its high prevalence, the cellular and molecular mechanisms of chronic obstructive
pulmonary disease (COPD) are far from being understood. Here, we determine disease …

The NIEHS TaRGET II Consortium and environmental epigenomics

T Wang, EC Pehrsson, D Purushotham, D Li… - Nature …, 2018 - nature.com
To the Editor: We describe here the aims and scope of one component of the US National
Institute of Environmental Health Sciences'(NIEHS) multiphased Toxicant Exposures and …

[PDF][PDF] Comprehensive analysis of chromatin states in atypical teratoid/rhabdoid tumor identifies diverging roles for SWI/SNF and polycomb in gene regulation

S Erkek, PD Johann, MA Finetti, Y Drosos, HC Chou… - Cancer cell, 2019 - cell.com
Biallelic inactivation of SMARCB1, encoding a member of the SWI/SNF chromatin
remodeling complex, is the hallmark genetic aberration of atypical teratoid rhabdoid tumors …

The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome

M Duran-Ferrer, G Clot, F Nadeu, R Beekman… - Nature Cancer, 2020 - nature.com
We report a systematic analysis of the DNA methylation variability in 1,595 samples of
normal cell subpopulations and 14 tumor subtypes spanning the entire human B-cell …

[PDF][PDF] Single-cell functional genomics reveals determinants of sensitivity and resistance to natural killer cells in blood cancers

O Dufva, S Gandolfi, J Huuhtanen, O Dashevsky… - Immunity, 2023 - cell.com
Cancer cells can evade natural killer (NK) cell activity, thereby limiting anti-tumor immunity.
To reveal genetic determinants of susceptibility to NK cell activity, we examined interacting …

[HTML][HTML] scTAM-seq enables targeted high-confidence analysis of DNA methylation in single cells

A Bianchi, M Scherer, R Zaurin, K Quililan, L Velten… - Genome Biology, 2022 - Springer
Single-cell DNA methylation profiling currently suffers from excessive noise and/or limited
cellular throughput. We developed scTAM-seq, a targeted bisulfite-free method for profiling …

Fine-mapping genetic associations

A Hutchinson, J Asimit, C Wallace - Human Molecular Genetics, 2020 - academic.oup.com
Whilst thousands of genetic variants have been associated with human traits, identifying the
subset of those variants that are causal requires a further 'fine-mapping'step. We review the …

Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome

I Shchukina, J Bagaitkar, O Shpynov, E Loginicheva… - Nature aging, 2021 - nature.com
The impact of healthy aging on molecular programming of immune cells is poorly
understood. Here we report comprehensive characterization of healthy aging in human …