Results 241 to 250 of about 48,393 (270)

Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration.

Cell Reports, 2020
Age-related macular degeneration (AMD) is a leading cause of vision loss. To better understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we present a comprehensive database of human retina and retinal pigment epithelium ...
L. Orozco, Hsu-hsin Chen, Christian B. Cox, K. Katschke, Rommel Arceo, Carmina Espiritu, P. Caplazi, S. Nghiem, Y. Chen, Z. Modrusan, A. Dressen, Leonard D. Goldstein, C. Clarke, T. Bhangale, B. Yaspan, M. Jeanne, M. Townsend, M. van Lookeren Campagne, J. Hackney   +18 more
semanticscholar   +1 more source

eQTL Analysis in Humans

2009
Improving human health is a major aim of medical research, but it requires that variation between individuals be taken into account since each person carries a different combination of gene variants and is exposed to different environmental conditions, which can cause differences in susceptibility to diseases.
Franke, L., Jansen, R. C.
openaire   +2 more sources

Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in nonalcoholic fatty liver disease

bioRxiv, 2021
Background & Aims Nonalcoholic fatty liver disease (NAFLD) poses an impending clinical burden. Genome-wide association studies have revealed a limited contribution of genomic variants to the disease, requiring alternative but robust approaches to ...
Taekyeong Yoo, S. Joo, Hyo Jung Kim, Hyun Young Kim, H. Sim, Jieun Lee, Hee-Hoon Kim, Sunhee Jung, Youngha Lee, O. Jamialahmadi, S. Romeo, W. Jeong, G. Hwang, K. Kang, Jae Woo Kim, Won Kim, Murim Choi   +16 more
semanticscholar   +1 more source

QTL Analysis Beyond eQTLs

2019
Expression quantitative trait locus (eQTL) analysis is a powerful method to understand the association between genetic variant and gene expression; it also has potential impact for the study of transcription medicine for human complex disease. In the past two decades, the researchers focus on studying the eQTL, while more and more evidence shows that ...
Jia, Wen, Conor, Nodzak, Xinghua, Shi
openaire   +2 more sources

Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping

medRxiv
Population-scale single-cell transcriptomic technologies (scRNA-seq) enable characterizing variant effects on gene regulation at the cellular level (e.g., single-cell eQTLs; sc-eQTLs).
Z. Zhang, A. Kim, N. Suboc, N. Mancuso, S. Gazal   +4 more
semanticscholar   +1 more source

Getting dynamic with eQTLs

Nature Reviews Genetics, 2019
A recent study in Science demonstrates how capturing gene expression over a developmental time course enables the discovery of dynamic expression quantitative trait loci (eQTLs) that would otherwise be challenging to find.
openaire   +2 more sources

eQTL epistasis: Detecting complex interaction effects between multiple loci from eQTL data

2013 IEEE International Conference on Bioinformatics and Biomedicine, 2013
The identification of expression quantitative trait loci (eQTL) epistasis, which is a non-linear interaction effect between two or more genetic loci that control quantitative traits, play an essential role in understanding the mechanisms of gene interactions in the complex diseases. However, many studies have ignored the possibility of the epistasis in
Mingon Kang, Shuo Li, Chunyu Liu, Jean Gao   +3 more
openaire   +1 more source

Systems genetics, bioinformatics and eQTL mapping

Genetica, 2010
Jansen and Nap (Trends Genet 17(7):388-391, 2001) and Jansen (Nat Rev Genet 4:145-151, 2003) first proposed the concept of genetical genomics, or genome-wide genetic analysis of gene expression data, which is also called transcriptome mapping. In this approach, microarrays are used for measuring gene expression levels across genetic mapping populations.
Hong, Li, Hongwen, Deng
openaire   +2 more sources

eQTL Mapping Using Transcription Factor Affinity

2019
In the last decades, thousands of common genetic variants have been associated with human diseases by genome-wide association studies (GWAS). However, the functional interpretation of GWAS hits is usually nontrivial, especially because most of them lay outside the coding genome.
Elisa, Mariella, Elena, Grassi, Paolo, Provero   +2 more
openaire   +2 more sources

Strategies for eQTL mapping in allopolyploid organisms

Theoretical and Applied Genetics, 2020
This study uses simulations to explore statistical power and false-positive rates for eQTL mapping in allopolyploid organisms and provides guidelines to apply eQTL mapping in these organisms. In recent years, RNA-seq has become the dominant technology for eQTL studies. However, most work has been in diploid organisms.
Kang-Hsien Fan, Katrien M. Devos, Paul Schliekelman   +2 more
openaire   +2 more sources