Diverse mutational landscapes in human lymphocytes

HE Machado, E Mitchell, NF Øbro, K Kübler, M Davies… - Nature, 2022 - nature.com
The lymphocyte genome is prone to many threats, including programmed mutation during
differentiation, antigen-driven proliferation and residency in diverse microenvironments …

Statistical and integrative system-level analysis of DNA methylation data

AE Teschendorff, CL Relton - Nature Reviews Genetics, 2018 - nature.com
Epigenetics plays a key role in cellular development and function. Alterations to the
epigenome are thought to capture and mediate the effects of genetic and environmental risk …

Genetics of rheumatoid arthritis: 2018 status

Y Okada, S Eyre, A Suzuki, Y Kochi… - Annals of the rheumatic …, 2019 - ard.bmj.com
Study of the genetics of rheumatoid arthritis (RA) began about four decades ago with the
discovery of HLA-DRB1. Since the beginning of this century, a number of non-HLA risk loci …

The genetics of multiple sclerosis: from 0 to 200 in 50 years

SE Baranzini, JR Oksenberg - Trends in genetics, 2017 - cell.com
Multiple sclerosis (MS) is a common autoimmune disease that targets myelin in the central
nervous system (CNS). Multiple genome-wide association studies (GWAS) over the past 10 …

EWAS Atlas: a curated knowledgebase of epigenome-wide association studies

M Li, D Zou, Z Li, R Gao, J Sang, Y Zhang… - Nucleic acids …, 2019 - academic.oup.com
Abstract Epigenome-Wide Association Study (EWAS) has become increasingly significant in
identifying the associations between epigenetic variations and different biological traits. In …

PaintOmics 4: new tools for the integrative analysis of multi-omics datasets supported by multiple pathway databases

T Liu, P Salguero, M Petek… - Nucleic Acids …, 2022 - academic.oup.com
PaintOmics is a web server for the integrative analysis and visualisation of multi-omics
datasets using biological pathway maps. PaintOmics 4 has several notable updates that …

Interpreting non-coding disease-associated human variants using single-cell epigenomics

KJ Gaulton, S Preissl, B Ren - Nature Reviews Genetics, 2023 - nature.com
Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

L Fachal, H Aschard, J Beesley, DR Barnes, J Allen… - Nature …, 2020 - nature.com
Genome-wide association studies have identified breast cancer risk variants in over 150
genomic regions, but the mechanisms underlying risk remain largely unknown. These …

Identification of differentially methylated cell types in epigenome-wide association studies

SC Zheng, CE Breeze, S Beck, AE Teschendorff - Nature methods, 2018 - nature.com
An outstanding challenge of epigenome-wide association studies (EWASs) performed in
complex tissues is the identification of the specific cell type (s) responsible for the observed …

Epigenetic prediction of response to anti-PD-1 treatment in non-small-cell lung cancer: a multicentre, retrospective analysis

M Duruisseaux, A Martínez-Cardús… - The Lancet …, 2018 - thelancet.com
Summary Background Anti-programmed death-1 (PD-1) treatment for advanced non-small-
cell lung cancer (NSCLC) has improved the survival of patients. However, a substantial …