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 …

Transcriptome and genome sequencing uncovers functional variation in humans

T Lappalainen, M Sammeth, MR Friedländer… - Nature, 2013 - nature.com
Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

How next-generation sequencing is transforming complex disease genetics

H Kilpinen, JC Barrett - Trends in Genetics, 2013 - cell.com
Progress in understanding the genetics of human disease is closely tied to technological
developments in DNA sequencing. Recently, next-generation technology has transformed …

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

PAC 't Hoen, MR Friedländer, J Almlöf… - Nature …, 2013 - nature.com
RNA sequencing is an increasingly popular technology for genome-wide analysis of
transcript sequence and abundance. However, understanding of the sources of technical …

The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis

M van de Bunt, KJ Gaulton, L Parts, I Moran… - PloS one, 2013 - journals.plos.org
Recent advances in the understanding of the genetics of type 2 diabetes (T2D) susceptibility
have focused attention on the regulation of transcriptional activity within the pancreatic beta …

ISEV position paper: extracellular vesicle RNA analysis and bioinformatics

AF Hill, DM Pegtel, U Lambertz, T Leonardi… - Journal of …, 2013 - Taylor & Francis
Extracellular vesicles (EVs) are the collective term for the various vesicles that are released
by cells into the extracellular space. Such vesicles include exosomes and microvesicles …

Genetic regulation of human adipose microRNA expression and its consequences for metabolic traits

M Civelek, R Hagopian, C Pan, N Che… - Human molecular …, 2013 - academic.oup.com
The genetics of messenger RNA (mRNA) expression has been extensively studied in
humans and other organisms, but little is known about genetic factors contributing to …

Genetics of gene expression in immunity to infection

BP Fairfax, JC Knight - Current opinion in immunology, 2014 - Elsevier
Highlights•Mapping gene expression as a quantitative trait resolves functional regulatory
genetic variants.•Genomic modulators of immune gene expression are typically context …

Heritable components of the human fecal microbiome are associated with visceral fat

CI Le Roy, M Beaumont, MA Jackson, CJ Steves… - Gut …, 2018 - Taylor & Francis
Obesity and its associated diseases are one of the major causes of death worldwide. The
gut microbiota has been identified to have essential regulatory effects on human metabolism …

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

KJ Siddle, M Deschamps, L Tailleux… - Genome …, 2014 - genome.cshlp.org
MicroRNAs (miRNAs) are critical regulators of gene expression, and their role in a wide
variety of biological processes, including host antimicrobial defense, is increasingly well …