<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Aguet, François</style></author><author><style face="normal" font="default" size="100%">Oliva, Meritxell</style></author><author><style face="normal" font="default" size="100%">Muñoz-Aguirre, Manuel</style></author><author><style face="normal" font="default" size="100%">Kasela, Silva</style></author><author><style face="normal" font="default" size="100%">Wucher, Valentin</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Hamel, Andrew R</style></author><author><style face="normal" font="default" size="100%">Viñuela, Ana</style></author><author><style face="normal" font="default" size="100%">Roberts, Amy L</style></author><author><style face="normal" font="default" size="100%">Mangul, Serghei</style></author><author><style face="normal" font="default" size="100%">Wen, Xiaoquan</style></author><author><style face="normal" font="default" size="100%">Wang, Gao</style></author><author><style face="normal" font="default" size="100%">Barbeira, Alvaro N</style></author><author><style face="normal" font="default" size="100%">Garrido-Martín, Diego</style></author><author><style face="normal" font="default" size="100%">Nadel, Brian B</style></author><author><style face="normal" font="default" size="100%">Zou, Yuxin</style></author><author><style face="normal" font="default" size="100%">Bonazzola, Rodrigo</style></author><author><style face="normal" font="default" size="100%">Quan, Jie</style></author><author><style face="normal" font="default" size="100%">Brown, Andrew</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Angel</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Getz, Gad</style></author><author><style face="normal" font="default" size="100%">Dermitzakis, Emmanouil T</style></author><author><style face="normal" font="default" size="100%">Small, Kerrin S</style></author><author><style face="normal" font="default" size="100%">Stephens, Matthew</style></author><author><style face="normal" font="default" size="100%">Xi, Hualin S</style></author><author><style face="normal" font="default" size="100%">Im, Hae Kyung</style></author><author><style face="normal" font="default" size="100%">Guigo, Roderic</style></author><author><style face="normal" font="default" size="100%">Segrè, Ayellet V</style></author><author><style face="normal" font="default" size="100%">Stranger, Barbara E</style></author><author><style face="normal" font="default" size="100%">Ardlie, Kristin G</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Cell type-specific genetic regulation of gene expression across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Long Noncoding</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcriptome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913075?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Demanelis, Kathryn</style></author><author><style face="normal" font="default" size="100%">Jasmine, Farzana</style></author><author><style face="normal" font="default" size="100%">Chen, Lin S</style></author><author><style face="normal" font="default" size="100%">Chernoff, Meytal</style></author><author><style face="normal" font="default" size="100%">Tong, Lin</style></author><author><style face="normal" font="default" size="100%">Delgado, Dayana</style></author><author><style face="normal" font="default" size="100%">Zhang, Chenan</style></author><author><style face="normal" font="default" size="100%">Shinkle, Justin</style></author><author><style face="normal" font="default" size="100%">Sabarinathan, Mekala</style></author><author><style face="normal" font="default" size="100%">Lin, Hannah</style></author><author><style face="normal" font="default" size="100%">Ramirez, Eduardo</style></author><author><style face="normal" font="default" size="100%">Oliva, Meritxell</style></author><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Stranger, Barbara E</style></author><author><style face="normal" font="default" size="100%">Lai, Tsung-Po</style></author><author><style face="normal" font="default" size="100%">Aviv, Abraham</style></author><author><style face="normal" font="default" size="100%">Ardlie, Kristin G</style></author><author><style face="normal" font="default" size="100%">Aguet, François</style></author><author><style face="normal" font="default" size="100%">Ahsan, Habibul</style></author><author><style face="normal" font="default" size="100%">Doherty, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Kibriya, Muhammad G</style></author><author><style face="normal" font="default" size="100%">Pierce, Brandon L</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Determinants of telomere length across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Aging</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Markers</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Telomere</style></keyword><keyword><style  face="normal" font="default" size="100%">Telomere Homeostasis</style></keyword><keyword><style  face="normal" font="default" size="100%">Telomere Shortening</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Telomere shortening is a hallmark of aging. Telomere length (TL) in blood cells has been studied extensively as a biomarker of human aging and disease; however, little is known regarding variability in TL in nonblood, disease-relevant tissue types. Here, we characterize variability in TLs from 6391 tissue samples, representing &gt;20 tissue types and 952 individuals from the Genotype-Tissue Expression (GTEx) project. We describe differences across tissue types, positive correlation among tissue types, and associations with age and ancestry. We show that genetic variation affects TL in multiple tissue types and that TL may mediate the effect of age on gene expression. Our results provide the foundational knowledge regarding TL in healthy tissues that is needed to interpret epidemiological studies of TL and human health.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913074?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Oliva, Meritxell</style></author><author><style face="normal" font="default" size="100%">Muñoz-Aguirre, Manuel</style></author><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Wucher, Valentin</style></author><author><style face="normal" font="default" size="100%">Gewirtz, Ariel D H</style></author><author><style face="normal" font="default" size="100%">Cotter, Daniel J</style></author><author><style face="normal" font="default" size="100%">Parsana, Princy</style></author><author><style face="normal" font="default" size="100%">Kasela, Silva</style></author><author><style face="normal" font="default" size="100%">Balliu, Brunilda</style></author><author><style face="normal" font="default" size="100%">Viñuela, Ana</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Mohammadi, Pejman</style></author><author><style face="normal" font="default" size="100%">Aguet, François</style></author><author><style face="normal" font="default" size="100%">Zou, Yuxin</style></author><author><style face="normal" font="default" size="100%">Khramtsova, Ekaterina A</style></author><author><style face="normal" font="default" size="100%">Skol, Andrew D</style></author><author><style face="normal" font="default" size="100%">Garrido-Martín, Diego</style></author><author><style face="normal" font="default" size="100%">Reverter, Ferran</style></author><author><style face="normal" font="default" size="100%">Brown, Andrew</style></author><author><style face="normal" font="default" size="100%">Evans, Patrick</style></author><author><style face="normal" font="default" size="100%">Gamazon, Eric R</style></author><author><style face="normal" font="default" size="100%">Payne, Anthony</style></author><author><style face="normal" font="default" size="100%">Bonazzola, Rodrigo</style></author><author><style face="normal" font="default" size="100%">Barbeira, Alvaro N</style></author><author><style face="normal" font="default" size="100%">Hamel, Andrew R</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Angel</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Pierce, Brandon L</style></author><author><style face="normal" font="default" size="100%">Stephens, Matthew</style></author><author><style face="normal" font="default" size="100%">Eskin, Eleazar</style></author><author><style face="normal" font="default" size="100%">Dermitzakis, Emmanouil T</style></author><author><style face="normal" font="default" size="100%">Segrè, Ayellet V</style></author><author><style face="normal" font="default" size="100%">Im, Hae Kyung</style></author><author><style face="normal" font="default" size="100%">Engelhardt, Barbara E</style></author><author><style face="normal" font="default" size="100%">Ardlie, Kristin G</style></author><author><style face="normal" font="default" size="100%">Montgomery, Stephen B</style></author><author><style face="normal" font="default" size="100%">Battle, Alexis J</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author><author><style face="normal" font="default" size="100%">Guigo, Roderic</style></author><author><style face="normal" font="default" size="100%">Stranger, Barbara E</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">The impact of sex on gene expression across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, X</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Epigenesis, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Promoter Regions, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Characteristics</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913072?dopt=Abstract</style></custom1></record></records></xml>