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A brief guide to analyzing expression quantitative trait loci [PDF]

Molecules and Cells
: Molecular quantitative trait locus (molQTL) mapping has emerged as an important approach for elucidating the functional consequences of genetic variants and unraveling the causal mechanisms underlying diseases or complex traits. However, the variety of
Byung Su Ko, Sung Bae Lee, Tae-Kyung Kim
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Expression quantitative trait loci are highly sensitive to cellular differentiation state. [PDF]

PLoS Genetics, 2009
Genetical genomics is a strategy for mapping gene expression variation to expression quantitative trait loci (eQTLs). We performed a genetical genomics experiment in four functionally distinct but developmentally closely related hematopoietic cell ...
Alice Gerrits, Yang Li, Bruno M Tesson, Leonid V Bystrykh, Ellen Weersing, Albertina Ausema, Bert Dontje, Xusheng Wang, Rainer Breitling, Ritsert C Jansen, Gerald de Haan   +10 more
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Placental expression quantitative trait loci in an East Asian population [PDF]

HGG Advances
Summary: Expression quantitative trait loci (eQTL) analysis measures the contribution of genetic variation in gene expression on complex traits. Although this methodology has been used to examine gene regulation in numerous human tissues, eQTL research ...
Jaeyong Choi, Seung Mi Lee, Errol R. Norwitz, Ji Hoi Kim, Young Mi Jung, Chan-Wook Park, Jong Kwan Jun, Dakyung Lee, Yongjoon Jin, Sookyung Kim, Bukyoung Cha, Joong Shin Park, Jong-Il Kim   +12 more
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Integrating transcriptomic and genomic studies for the identification of expression quantitative trait loci associated with bovine paratuberculosis [PDF]

Frontiers in Veterinary Science
The study of the genetic basis underlying the host response to Mycobacterium avium subsp. paratuberculosis (MAP) is usually performed using genome-wide association studies (GWAS), which assess the individual association between genotyped markers ...
Gerard Badia-Bringué, Marta Alonso-Hearn   +1 more
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MicroRNAs and rs1803274 SNP-based BuChe downregulation are associated with metabolic syndrome through ghrelin hydrolysis and expression quantitative trait loci regulation in PD patients [PDF]

Frontiers in Molecular Neuroscience
IntroductionMetabolic syndrome (MetS) and Parkinson’s disease (PD) share common pathophysiological and molecular impairments related to high PD incidence in MetS patients.
Guenson Chevalier, Lucas Udovin, Matilde Otero-Losada, Sofia Bordet, Sofia Bordet, Santiago Perez-Lloret, Santiago Perez-Lloret, Francisco Capani, Francisco Capani   +8 more
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Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer [PDF]

BMC Genomics
Background Genomic instability and evading apoptosis are two fundamental hallmarks of cancer and closely linked to DNA damage response (DDR). By analyzing expression quantitative trait loci (eQTL) upon cell stimulation (called exposure eQTL (e2QTL)) it ...
Jessica Bigge, Laura L. Koebbe, Ann-Sophie Giel, Dorothea Bornholdt, Benedikt Buerfent, Pouria Dasmeh, Alexander M. Zink, Carlo Maj, Johannes Schumacher   +8 more
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Single-cell expression quantitative trait loci (eQTL) analysis of SLE-risk loci in lupus patient monocytes [PDF]

Arthritis Research & Therapy, 2021
Background We performed expression quantitative trait locus (eQTL) analysis in single classical (CL) and non-classical (NCL) monocytes from patients with systemic lupus erythematosus (SLE) to quantify the impact of well-established genetic risk alleles ...
Yogita Ghodke-Puranik, Zhongbo Jin, Kip D. Zimmerman, Hannah C. Ainsworth, Wei Fan, Mark A. Jensen, Jessica M. Dorschner, Danielle M. Vsetecka, Shreyasee Amin, Ashima Makol, Floranne Ernste, Thomas Osborn, Kevin Moder, Vaidehi Chowdhary, Carl D. Langefeld, Timothy B. Niewold   +15 more
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Variable expression quantitative trait loci analysis of breast cancer risk variants [PDF]

Scientific Reports, 2021
Genome wide association studies (GWAS) have identified more than 180 variants associated with breast cancer risk, however the underlying functional mechanisms and biological pathways which confer disease susceptibility remain largely unknown.
George A. R. Wiggins, Michael A. Black, Anita Dunbier, Tony R. Merriman, John F. Pearson, Logan C. Walker   +5 more
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Integrating single cell expression quantitative trait loci summary statistics to understand complex trait risk genes [PDF]

Nature Communications
Transcriptome-wide association study (TWAS) is a popular approach to dissect the functional consequence of disease associated non-coding variants. Most existing TWAS use bulk tissues and may not have the resolution to reveal cell-type specific target ...
Lida Wang, Chachrit Khunsriraksakul, Havell Markus, Dieyi Chen, Fan Zhang, Fang Chen, Xiaowei Zhan, Laura Carrel, Dajiang. J. Liu, Bibo Jiang   +9 more
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Pan-Genomic Regulation of Gene Expression in Normal and Pathological Human Placentas

Cells, 2023
In this study, we attempted to find genetic variants affecting gene expression (eQTL = expression Quantitative Trait Loci) in the human placenta in normal and pathological situations.
Clara Apicella, Camino S. M. Ruano, Basky Thilaganathan, Asma Khalil, Veronica Giorgione, Géraldine Gascoin, Louis Marcellin, Cassandra Gaspar, Sébastien Jacques, Colin E. Murdoch, Francisco Miralles, Céline Méhats, Daniel Vaiman   +12 more
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