Results 11 to 20 of about 46,677 (295)

Matrix eQTL: Ultra fast eQTL analysis via large matrix operations [PDF]

Bioinform., 2011
Expression quantitative trait loci (eQTL) mapping aims to determine genomic regions that regulate gene transcription. Expression QTL is used to study the regulatory structure of normal tissues and to search for genetic factors in complex diseases such as
Shabalin, Andrey A.
core   +6 more sources

A pipeline for RNA-seq based eQTL analysis with automated quality control procedures

BMC Bioinformatics, 2021
Background Advances in the expression quantitative trait loci (eQTL) studies have provided valuable insights into the mechanism of diseases and traits-associated genetic variants.
Tao Wang, Yongzhuang Liu, Junpeng Ruan, Xianjun Dong, Yadong Wang, Jiajie Peng   +5 more
doaj   +2 more sources

eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals

BioData Mining, 2021
Background Genomic studies increasingly integrate expression quantitative trait loci (eQTL) information into their analysis pipelines, but few tools exist for the visualization of colocalization between eQTL and GWAS results.
Theodore G. Drivas, Anastasia Lucas, Marylyn D. Ritchie   +2 more
doaj   +2 more sources

Bayesian Genome-wide TWAS method to leverage both cis- and trans- eQTL information through summary statistics [PDF]

bioRxiv, 2020
Transcriptome-wide association studies (TWAS) have been widely used to integrate gene expression and genetic data for studying complex traits. Due to the computational burden, existing TWAS methods do not assess distant trans- expression quantitative ...
Justin M. Luningham, Junyu Chen, Shizhen Tang, Philip L. De Jager, David A. Bennett, Aron S Buchman, Jingjing Yang, Justin M. Luningham, Junyu Chen, Shizhen Tang, Philip L. De Jager, David A. Bennett, Aron S Buchman, Jingjing Yang   +13 more
openalex   +2 more sources

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs

PLoS Genetics, 2023
The eQTL Catalogue is an open database of uniformly processed human molecular quantitative trait loci (QTLs). We are continuously updating the resource to further increase its utility for interpreting genetic associations with complex traits.
N. Kerimov, Ralf Tambets, J. Hayhurst, Ida Rahu, P. Kolberg, Uku Raudvere, Ivan Kuzmin, Anshika Chowdhary, Andreas Vija, Hans J. Teras, M. Kanai, Jacob Ulirsch, M. Ryten, J. Hardy, S. Guelfi, D. Trabzuni, Sarah Kim-Hellmuth, William Rayner, H. Finucane, Hedi Peterson, Abayomi Mosaku, Helen Parkinson, Kaur Alasoo   +22 more
semanticscholar   +1 more source

scQTLbase: an integrated human single-cell eQTL database

Nucleic Acids Research, 2023
Genome-wide association studies (GWAS) have identified numerous genetic variants associated with diseases and traits. However, the functional interpretation of these variants remains challenging.
Ruofan Ding, Qixuan Wang, Lihai Gong, Ting Zhang, Xudong Zou, Kewei Xiong, Qi Liao, Mireya Plass, Lei Li   +8 more
semanticscholar   +1 more source

The eQTL colocalization and transcriptome-wide association study identify potentially causal genes responsible for economic traits in Simmental beef cattle

Journal of Animal Science and Biotechnology, 2023
Background A detailed understanding of genetic variants that affect beef merit helps maximize the efficiency of breeding for improved production merit in beef cattle.
Wentao Cai, Yapeng Zhang, Tianpeng Chang, Zezhao Wang, B. Zhu, Yan Chen, Xue Gao, Lingyang Xu, Lupei Zhang, Huijiang Gao, Jiuzhou Z. Song, Junya Li   +11 more
semanticscholar   +1 more source

Cell type-specific and disease-associated eQTL in the human lung

bioRxiv, 2023
Common genetic variants confer substantial risk for chronic lung diseases, including pulmonary fibrosis (PF). Defining the genetic control of gene expression in a cell-type-specific and context-dependent manner is critical for understanding the ...
H. Natri, Christina B Del Azodi, L. Peter, C. Taylor, S. Chugh, Robert Kendle, M. Chung, D. Flaherty, Brittany K. Matlock, C. Calvi, T. Blackwell, L. Ware, M. Bacchetta, R. Walia, C. Shaver, JA Kropski, Davis J. McCarthy, N. Banovich   +17 more
semanticscholar   +1 more source

A cis-eQTL in NSUN2 promotes esophageal squamous-cell carcinoma progression and radiochemotherapy resistance by mRNA-m5C methylation

Signal Transduction and Targeted Therapy, 2022
Esophageal squamous cell carcinoma (ESCC) has poor prognosis because of the dif fi culty in early detection and low sensitivity of advanced disease to radiochemotherapy.
Xia Niu, Linna Peng, Weiling Liu, Chuan-wang Miao, Xinjie Chen, Jiahui Chu, Xinyu Yang, W. Tan, Chen Wu, D. Lin   +9 more
semanticscholar   +1 more source

Integrative analysis of summary data from GWAS and eQTL studies implicates genes differentially expressed in Alzheimer’s disease

BMC Genomics, 2022
Although genome-wide association studies (GWAS) have successfully located various genetic variants susceptible to Alzheimer’s Disease (AD), it is still unclear how specific variants interact with genes and tissues to elucidate pathologies associated with
Brian N. Lee, Xiaohui Yao, Li Shen
semanticscholar   +1 more source