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 …

Expression quantitative trait loci: present and future

AC Nica, ET Dermitzakis - Philosophical Transactions of …, 2013 - royalsocietypublishing.org
The last few years have seen the development of large efforts for the analysis of genome
function, especially in the context of genome variation. One of the most prominent directions …

BnIR: A multi-omics database with various tools for Brassica napus research and breeding

Z Yang, S Wang, L Wei, Y Huang, D Liu, Y Jia, C Luo… - Molecular Plant, 2023 - cell.com
In the post-genome-wide association study era, multi-omics techniques have shown great
power and potential for candidate gene mining and functional genomics research. However …

An atlas of active enhancers across human cell types and tissues

R Andersson, C Gebhard, I Miguel-Escalada, I Hoof… - Nature, 2014 - nature.com
Enhancers control the correct temporal and cell-type-specific activation of gene expression
in multicellular eukaryotes. Knowing their properties, regulatory activity and targets is crucial …

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

C Pattaro, A Teumer, M Gorski, AY Chu, M Li… - Nature …, 2016 - nature.com
Reduced glomerular filtration rate defines chronic kidney disease and is associated with
cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide …

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson… - Nature, 2014 - nature.com
Age at menarche is a marker of timing of puberty in females. It varies widely between
individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes …

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

A Battle, S Mostafavi, X Zhu, JB Potash… - Genome …, 2014 - genome.cshlp.org
Understanding the consequences of regulatory variation in the human genome remains a
major challenge, with important implications for understanding gene regulation and …

Mapping cis- and trans-regulatory effects across multiple tissues in twins

E Grundberg, KS Small, ÅK Hedman, AC Nica, A Buil… - Nature …, 2012 - nature.com
Sequence-based variation in gene expression is a key driver of disease risk. Common
variants regulating expression in cis have been mapped in many expression quantitative …

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

MI McCarthy, GR Abecasis, LR Cardon… - Nature reviews …, 2008 - nature.com
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …

Comparison of co-expression measures: mutual information, correlation, and model based indices

L Song, P Langfelder, S Horvath - BMC bioinformatics, 2012 - Springer
Background Co-expression measures are often used to define networks among genes.
Mutual information (MI) is often used as a generalized correlation measure. It is not clear …