Results 21 to 30 of about 40,172 (233)

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

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

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

Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits

Genetics Selection Evolution, 2021
Background Variants that regulate transcription, such as expression quantitative trait loci (eQTL), have shown enrichment in genome-wide association studies (GWAS) for mammalian complex traits. However, no study has reported eQTL in sheep, although it is
Zehu Yuan, Bolormaa Sunduimijid, Ruidong Xiang, Ralph Behrendt, Matthew I. Knight, Brett A. Mason, Coralie M. Reich, Claire Prowse-Wilkins, Christy J. Vander Jagt, Amanda J. Chamberlain, Iona M. MacLeod, Fadi Li, Xiangpeng Yue, Hans D. Daetwyler   +13 more
doaj   +1 more source

Joint analysis of SNP and gene expression data in genetic association studies of complex diseases [PDF]

, 2014
Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases.
Huang, Yen-Tsung, Lin, Xihong, VanderWeele, Tyler J.   +2 more
core   +1 more source

PancanQTL: systematic identification of cis-eQTLs and trans-eQTLs in 33 cancer types [PDF]

Nucleic Acids Research, 2017
Expression quantitative trait locus (eQTL) analysis, which links variations in gene expression to genotypes, is essential to understanding gene regulation and to interpreting disease-associated loci. Currently identified eQTLs are mainly in samples of blood and other normal tissues. However, no database comprehensively provides eQTLs in large number of
Gong, Jing, Mei, Shufang, Liu, Chunjie, Xiang, Yu, Ye, Youqiong, Zhang, Zhao, Feng, Jing, Liu, Renyan, Diao, Lixia, Guo, An-Yuan, Miao, Xiaoping, Han, Leng   +11 more
openaire   +2 more sources

Optimizing expression quantitative trait locus mapping workflows for single-cell studies

Genome Biology, 2021
Background Single-cell RNA sequencing (scRNA-seq) has enabled the unbiased, high-throughput quantification of gene expression specific to cell types and states.
Anna S. E. Cuomo, Giordano Alvari, Christina B. Azodi, single-cell eQTLGen consortium, Davis J. McCarthy, Marc Jan Bonder   +5 more
doaj   +1 more source

Using genomic annotations increases statistical power to detect eGenes. [PDF]

, 2016
MotivationExpression quantitative trait loci (eQTLs) are genetic variants that affect gene expression. In eQTL studies, one important task is to find eGenes or genes whose expressions are associated with at least one eQTL. The standard statistical method
Duong, Dat, Ernst, Jason, Eskin, Eleazar, Han, Buhm, Hormozdiari, Farhad, Sul, Jae Hoon, Zou, Jennifer   +6 more
core   +1 more source

Molecular Relationships between Bronchial Asthma and Hypertension as Comorbid Diseases

Journal of Integrative Bioinformatics, 2018
Comorbidity, a co-incidence of several disorders in an individual, is a common phenomenon. Their development is governed by multiple factors, including genetic variation.
Bragina Elena Yu., Goncharova Irina A., Garaeva Anna F., Nemerov Evgeniy V., Babovskaya Anastasija A., Karpov Andrey B., Semenova Yulia V., Zhalsanova Irina Z., Gomboeva Densema E., Saik Olga V., Zolotareva Olga I., Ivanisenko Vladimir A., Dosenko Victor E., Hofestaedt Ralf, Freidin Maxim B.   +14 more
doaj   +1 more source

ForestPMPlot: A Flexible Tool for Visualizing Heterogeneity Between Studies in Meta-analysis. [PDF]

, 2016
Meta-analysis has become a popular tool for genetic association studies to combine different genetic studies. A key challenge in meta-analysis is heterogeneity, or the differences in effect sizes between studies.
Eskin, Eleazar, Han, Buhm, Kang, Eun Yong, Li, Xiao, Park, Yurang, Segrè, Ayellet V   +5 more
core   +3 more sources