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Title: Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Authors: Chen, Lu
Ge, Bing
Casale, Francesco Paolo
Vasquez, Louella
Kwan, Tony
Garrido-Martin, Diego
Watt, Stephen
Yan, Ying
Kundu, Kousik
Ecker, Simone
Datta, Avik
Richardson, David
Burden, Frances
Mead, Daniel
Mann, Alice L
Maria Fernandez, Jose
Rowlston, Sophia
Wilder, Steven P
Farrow, Samantha
Shao, Xiaojian
Lambourne, John J
Redensek, Adriana
Albers, Cornelis A
Amstislavskiy, Vyacheslav
Ashford, Sofie
Berentsen, Kim
Bomba, Lorenzo
Bourque, Guillaume
Bujold, David
Busche, Stephan
Caron, Maxime
Chen, Shu-Huang
Cheung, Warren
Delaneau, Oliver
Dermitzakis, Emmanouil T
Elding, Heather
Colgiu, Irina
Bagger, Frederik O
Flicek, Paul
Habibi, Ehsan
Iotchkova, Valentina
Janssen-Megens, Eva
Kim, Bowon
Lehrach, Hans
Lowy, Ernesto
Mandoli, Amit 
Matarese, Filomena
Maurano, Matthew T
Morris, John A
Pancaldi, Vera
Pourfarzad, Farzin
Rehnstrom, Karola
Rendon, Augusto
Risch, Thomas
Sharifi, Nilofar
Simon, Marie-Michelle
Sultan, Marc
Valencia, Alfonso
Walter, Klaudia
Wang, Shuang-Yin
Frontini, Mattia
Antonarakis, Stylianos E
Clarke, Laura
Yaspo, Marie-Laure
Beck, Stephan
Guigo, Roderic
Rico, Daniel
Martens, Joost HA
Ouwehand, Willem H
Kuijpers, Taco W
Paul, Dirk S
Stunnenberg, Hendrik G
Stegle, Oliver
Downes, Kate
Pastinen, Tomi
Soranzo, Nicole
Keywords: Science & Technology
Life Sciences & Biomedicine
Biochemistry & Molecular Biology
Cell Biology
Issue Date: 17-Nov-2016
Publisher: CELL PRESS
Citation: Chen, Lu, Ge, Bing, Casale, Francesco Paolo, Vasquez, Louella, Kwan, Tony, Garrido-Martin, Diego, Watt, Stephen, Yan, Ying, Kundu, Kousik, Ecker, Simone, Datta, Avik, Richardson, David, Burden, Frances, Mead, Daniel, Mann, Alice L, Maria Fernandez, Jose, Rowlston, Sophia, Wilder, Steven P, Farrow, Samantha, Shao, Xiaojian, Lambourne, John J, Redensek, Adriana, Albers, Cornelis A, Amstislavskiy, Vyacheslav, Ashford, Sofie, Berentsen, Kim, Bomba, Lorenzo, Bourque, Guillaume, Bujold, David, Busche, Stephan, Caron, Maxime, Chen, Shu-Huang, Cheung, Warren, Delaneau, Oliver, Dermitzakis, Emmanouil T, Elding, Heather, Colgiu, Irina, Bagger, Frederik O, Flicek, Paul, Habibi, Ehsan, Iotchkova, Valentina, Janssen-Megens, Eva, Kim, Bowon, Lehrach, Hans, Lowy, Ernesto, Mandoli, Amit, Matarese, Filomena, Maurano, Matthew T, Morris, John A, Pancaldi, Vera, Pourfarzad, Farzin, Rehnstrom, Karola, Rendon, Augusto, Risch, Thomas, Sharifi, Nilofar, Simon, Marie-Michelle, Sultan, Marc, Valencia, Alfonso, Walter, Klaudia, Wang, Shuang-Yin, Frontini, Mattia, Antonarakis, Stylianos E, Clarke, Laura, Yaspo, Marie-Laure, Beck, Stephan, Guigo, Roderic, Rico, Daniel, Martens, Joost HA, Ouwehand, Willem H, Kuijpers, Taco W, Paul, Dirk S, Stunnenberg, Hendrik G, Stegle, Oliver, Downes, Kate, Pastinen, Tomi, Soranzo, Nicole (2016-11-17). Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. CELL 167 (5) : 1398-+. ScholarBank@NUS Repository.
Abstract: Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic profiling in three major human immune cell types (CD14+ monocytes, CD16+ neutrophils, and naive CD4+ T cells) from up to 197 individuals. We assess, quantitatively, the relative contribution of cis-genetic and epigenetic factors to transcription and evaluate their impact as potential sources of confounding in epigenome-wide association studies. Further, we characterize highly coordinated genetic effects on gene expression, methylation, and histone variation through quantitative trait locus (QTL) mapping and allele-specific (AS) analyses. Finally, we demonstrate colocalization of molecular trait QTLs at 345 unique immune disease loci. This expansive, high-resolution atlas of multi-omics changes yields insights into cell-type-specific correlation between diverse genomic inputs, more generalizable correlations between these inputs, and defines molecular events that may underpin complex disease risk.
Source Title: CELL
ISSN: 0092-8674
DOI: 10.1016/j.cell.2016.10.026
Appears in Collections:Staff Publications

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