Results 21 to 30 of about 46,677 (295)

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

Cell Reports, 2020
Luz D. Orozco, Hsu-Hsin Chen, Christian L. Cox, Kenneth J. Katschke, Rommel Arceo, Carmina Espiritu, Patrick Caplazi, Sarajane Saturnio Nghiem, Ying‐Jiun Chen, Zora Modrušan, Amy Dressen, Leonard D. Goldstein, Christine Clarke, Tushar Bhangale, Brian L. Yaspan, Marion Jeanne, Michael J. Townsend, Menno van Lookeren Campagne, Jason A. Hackney   +18 more
openalex   +2 more sources

Transcriptome-wide association study and eQTL colocalization identify potentially causal genes responsible for human bone mineral density GWAS associations

eLife, 2022
Genome-wide association studies (GWASs) for bone mineral density (BMD) in humans have identified over 1100 associations to date. However, identifying causal genes implicated by such studies has been challenging.
B. Al-Barghouthi, Will T. Rosenow, Kangping Du, J. Heo, R. Maynard, L. Mesner, G. Calabrese, Aaron Nakasone, Bhavya Senwar, L. Gerstenfeld, James Larner, Virginia Ferguson, C. Ackert-Bicknell, E. Morgan, D. Brautigan, C. Farber   +15 more
semanticscholar   +1 more source

The Power of Single-Cell RNA Sequencing in eQTL Discovery

Genes, 2022
Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated
Maleeha Maria, Negar Pouyanfar, T. Örd, M. Kaikkonen   +3 more
semanticscholar   +1 more source

Transcriptional dynamics of colorectal cancer risk associated variation at 11q23.1 correlate with tuft cell abundance and marker expression in silico

Scientific Reports, 2022
Colorectal cancer (CRC) is characterised by heritable risk that is not well understood. Heritable, genetic variation at 11q23.1 is associated with increased colorectal cancer (CRC) risk, demonstrating eQTL effects on 3 cis- and 23 trans-eQTL targets.
Bradley T. Harris, Vidya Rajasekaran, James P. Blackmur, Alan O’Callaghan, Kevin Donnelly, Maria Timofeeva, Peter G. Vaughan-Shaw, Farhat V. N. Din, Malcolm G. Dunlop, Susan M. Farrington   +9 more
doaj   +1 more source

eQTL mapping using allele-specific count data is computationally feasible, powerful, and provides individual-specific estimates of genetic effects

PLoS Genetics, 2022
Using information from allele-specific gene expression (ASE) can improve the power to map gene expression quantitative trait loci (eQTLs). However, such practice has been limited, partly due to computational challenges and lack of clarification on the ...
Vasyl Zhabotynsky, Licai Huang, Paul Little, Yijuan Hu, F. Pardo-Manuel de Villena, F. Zou, Wei Sun   +6 more
semanticscholar   +1 more source

An Empirical Bayes Approach for Multiple Tissue eQTL Analysis [PDF]

, 2017
Expression quantitative trait loci (eQTL) analyses, which identify genetic markers associated with the expression of a gene, are an important tool in the understanding of diseases in human and other populations.
Li, Gen, Nobel, Andrew B., Rusyn, Ivan, Shabalin, Andrey A., Wright, Fred A.   +4 more
core   +3 more sources

Genome-wide co-expression analysis in multiple tissues [PDF]

, 2008
Expression quantitative trait loci (eQTLs) represent genetic control points of gene expression, and can be categorized as cis- and trans-acting, reflecting local and distant regulation of gene expression respectively.
Aitman, T.J., Cook, S.A., Dickens, N.J., Grieve, I.C., Hubner, N., Kren, V., Mangion, J., Petretto, E., Pravenec, M.   +8 more
core   +7 more sources

Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases

Scientific Reports, 2022
To create a scientific resource of expression quantitative trail loci (eQTL), we conducted a genome-wide association study (GWAS) using genotypes obtained from whole genome sequencing (WGS) of DNA and gene expression levels from RNA sequencing (RNA-seq ...
Chunyu Liu, Roby Joehanes, Jiantao Ma, Yuxuan Wang, Xianbang Sun, Amena Keshawarz, Meera Sooda, Tianxiao Huan, Shih-Jen Hwang, Helena Bui, Brandon Tejada, Peter J. Munson, Cumhur Y. Demirkale, Nancy L. Heard-Costa, Achilleas N. Pitsillides, Gina M. Peloso, Michael Feolo, Nataliya Sharopova, Ramachandran S. Vasan, Daniel Levy   +19 more
doaj   +1 more source

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. [PDF]

, 2019
The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease.
Aguiar, Assis, Auton, Bijvelds, Blackwell, Bonder, D'Antonio, D'Antonio-Chronowska, DeBoever, Dechecchi, DeGiorgio, Dendrou, Diwakar, Dobin, Eguchi, Ernst, Fehrmann, Freudenberg, Gambino, Gensterblum-Miller, Giambartolomei, González-Galarza, Gough, Graffelman, Guo, Hardy, Harrow, Herrmann, Holoshitz, Huang, Jakubosky, Jakubosky, Jensen, Jia, Kilpinen, Kilpinen, Klein, Kontakioti, Kundaje, Laki, Lam, Lee, Leung, Li, Li, Li, Li, Li, Lyczak, Mahdi, Mall, Matzaraki, Mayba, McNicholas, Miretti, Morison, Munder, Nariai, Norman, Oldstone, Panopoulos, Panousis, Pier, Robinson, Sondo, Stegle, Stoltz, Streeter, Tan, Tomati, Trowsdale, Van der Auwera, Vicente, Wilke, Yin, Zhang, Zheng   +76 more
core   +2 more sources

DNA methylation modulated genetic variant effect on gene transcriptional regulation

Genome Biology, 2023
Background Expression quantitative trait locus (eQTL) analysis has emerged as an important tool in elucidating the link between genetic variants and gene expression, thereby bridging the gap between risk SNPs and associated diseases.
Yong Zeng, Rahi Jain, Magnus Lam, Musaddeque Ahmed, Haiyang Guo, Wenjie Xu, Yuan Zhong, Gong-Hong Wei, Wei Xu, Housheng Hansen He   +9 more
doaj   +1 more source