Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Validation of a DNA methylation microarray for 850,000 CpG sites of the human genome enriched in enhancer sequences

S Moran, C Arribas, M Esteller - Epigenomics, 2016 - Taylor & Francis
Aim: DNA methylation is the best known epigenetic mark. Cancer and other pathologies
show an altered DNA methylome. However, delivering complete DNA methylation maps is …

[HTML][HTML] FXR regulates intestinal cancer stem cell proliferation

T Fu, S Coulter, E Yoshihara, TG Oh, S Fang… - Cell, 2019 - cell.com
Increased levels of intestinal bile acids (BAs) are a risk factor for colorectal cancer (CRC).
Here, we show that the convergence of dietary factors (high-fat diet) and dysregulated WNT …

[HTML][HTML] Genetic and epigenetic characteristics of inflammatory bowel Disease–Associated colorectal cancer

K Rajamäki, A Taira, R Katainen, N Välimäki… - Gastroenterology, 2021 - Elsevier
Background & Aims Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory
disorder associated with an elevated risk of colorectal cancer (CRC). IBD-associated CRC …

[HTML][HTML] The role of regulatory variation in complex traits and disease

FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

Role of non-coding sequence variants in cancer

E Khurana, Y Fu, D Chakravarty, F Demichelis… - Nature Reviews …, 2016 - nature.com
Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

Fast and efficient QTL mapper for thousands of molecular phenotypes

H Ongen, A Buil, AA Brown, ET Dermitzakis… - …, 2016 - academic.oup.com
Motivation: In order to discover quantitative trait loci, multi-dimensional genomic datasets
combining DNA-seq and ChiP-/RNA-seq require methods that rapidly correlate tens of …

[HTML][HTML] Apc restoration promotes cellular differentiation and reestablishes crypt homeostasis in colorectal cancer

LE Dow, KP O'Rourke, J Simon, DF Tschaharganeh… - Cell, 2015 - cell.com
The adenomatous polyposis coli (APC) tumor suppressor is mutated in the vast majority of
human colorectal cancers (CRC) and leads to deregulated Wnt signaling. To determine …

[HTML][HTML] An optimized shotgun strategy for the rapid generation of comprehensive human proteomes

DB Bekker-Jensen, CD Kelstrup, TS Batth, SC Larsen… - Cell systems, 2017 - cell.com
This study investigates the challenge of comprehensively cataloging the complete human
proteome from a single-cell type using mass spectrometry (MS)-based shotgun proteomics …

[HTML][HTML] Epigenome-wide association study of COVID-19 severity with respiratory failure

MC de Moura, V Davalos, L Planas-Serra… - …, 2021 - thelancet.com
Background Patients infected with the severe acute respiratory syndrome coronavirus 2
(SARS-CoV-2), responsible for the coronavirus disease 2019 (COVID-19), exhibit a wide …