Andrew Brown

ORCID: 0000-0002-8087-3033
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About
Contact & Profiles
Research Areas
  • Genetic Associations and Epidemiology
  • Bioinformatics and Genomic Networks
  • Genetic Mapping and Diversity in Plants and Animals
  • Gene expression and cancer classification
  • Genomics and Chromatin Dynamics
  • RNA Research and Splicing
  • Genomics and Phylogenetic Studies
  • Epigenetics and DNA Methylation
  • Genetics and Neurodevelopmental Disorders
  • Pancreatic function and diabetes
  • RNA modifications and cancer
  • Liver Disease Diagnosis and Treatment
  • Chromosomal and Genetic Variations
  • Functional Brain Connectivity Studies
  • Genomic variations and chromosomal abnormalities
  • Aortic aneurysm repair treatments
  • Archaeology and ancient environmental studies
  • Recycling and Waste Management Techniques
  • Cancer-related molecular mechanisms research
  • Pacific and Southeast Asian Studies
  • Bipolar Disorder and Treatment
  • Glaucoma and retinal disorders
  • Sports injuries and prevention
  • Municipal Solid Waste Management
  • Metabolism, Diabetes, and Cancer

Genomics (United Kingdom)
2019-2025

University of Dundee
2019-2025

Marshall University
2023-2025

Ninewells Hospital
2021-2024

University of Pennsylvania
2013-2024

Edward Via College of Osteopathic Medicine
2024

Organisation de Coopération et de Développement Economiques
2021-2024

Directorate of Health
2024

Riverside Methodist Hospital
2024

OhioHealth
2024

Characterization of the molecular function human genome and its variation across individuals is essential for identifying cellular mechanisms that underlie genetic traits diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize in gene expression levels diverse tissues body, many which are not easily accessible. Here we describe effects on 44 tissues. We find local affects majority genes, further identify inter-chromosomal 93 genes 112 loci. On basis identified effects,...

10.1038/nature24277 article EN cc-by Nature 2017-10-10
François Aguet Shankara Anand Kristin Ardlie Stacey Gabriel Gad Getz and 95 more Aaron Graubert Kane Hadley Robert E. Handsaker Katherine Huang Seva Kashin Xiao Li Daniel G. MacArthur Samuel R. Meier Jared L. Nedzel Duyen T. Nguyen Ayellet V. Segrè Ellen Todres Brunilda Balliu Alvaro Barbeira Alexis Battle Rodrigo Bonazzola Andrew Brown Christopher Brown Stephane E. Castel Donald F. Conrad Daniel J. Cotter Nancy J. Cox Sayantan Das Olivia M. de Goede Emmanouil T. Dermitzakis Jonah Einson Barbara E. Engelhardt Eleazar Eskin Tiffany Eulalio Nicole M. Ferraro Elise D. Flynn Laure Frésard Eric R. Gamazon Diego Garrido-Martín Nicole R. Gay Michael J. Gloudemans Roderic Guigó Andrew R. Hame Yuan He Paul Hoffman Farhad Hormozdiari Lei Hou Hae Kyung Im Brian Jo Silva Kasela Manolis Kellis Sarah Kim-Hellmuth Alan Kwong Tuuli Lappalainen Xin Li Yanyu Liang Serghei Mangul Pejman Mohammadi Stephen B. Montgomery Manuel Muñoz-Aguirre Daniel Nachun Andrew B. Nobel Meritxell Oliva YoSon Park Yongjin Park Princy Parsana Abhiram Rao Ferrán Reverter John M. Rouhana Chiara Sabatti Ashis Saha Matthew Stephens Barbara E. Stranger Benjamin J. Strober Nicole A. Teran Ana Viñuela Gao Wang Xiaoquan Wen Fred A. Wright Valentin Wucher Yuxin Zou Pedro G. Ferreira Gen Li Marta Melé Esti Yeger‐Lotem Mary E. Barcus Debra Bradbury Tanya Krubit Jeffrey A. McLean Liqun Qi Karna Robinson Nancy Roche Anna Marie Smith Leslie H. Sobin David E. Tabor Anita H. Undale Jason Bridge Lori E. Brigham Barbara A. Foster Bryan M. Gillard

The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.

10.1126/science.aaz1776 article EN public-domain Science 2020-09-10
David Bentley Shankar Balasubramanian Harold Swerdlow Geoffrey Smith John Milton and 95 more Clive Brown Kevin P. Hall Dirk J. Evers C.L. Barnes Helen Bignell Jonathan M. Boutell Jason Bryant Richard J. Carter R. Keira Cheetham Anthony J. Cox Darren J. Ellis Michael R. Flatbush Niall Gormley Sean Humphray Leslie J. Irving Mirian Karbelashvili Scott Kirk Heng Li Xiaohai Liu Klaus S. Maisinger Lisa Murray Bojan Obradović Tobias W. B. Ost Michael L. Parkinson Mark Pratt Isabelle Rasolonjatovo Mark T. Reed Roberto Rigatti Chiara Rodighiero Mark T. Ross Andrea Sabot S. V. Sankar Aylwyn Scally Gary P. Schroth Mark E. B. Smith Vincent P. Smith Anastassia Spiridou Peta E. Torrance Svilen Tzonev Eric H. Vermaas Klaudia Walter Xiaolin Wu Lu Zhang Mohammed D. Alam Carole Anastasi Ify C. Aniebo David M. Bailey Iain Bancarz Saibal Banerjee Selena G. Barbour Primo Baybayan Vincent A. Benoit Kevin F. Benson Claire Bevis Phillip J. Black Asha Boodhun Joe S. Brennan John A. Bridgham Rob Brown Andrew Brown Dale H. Buermann Abass A. Bundu James C. Burrows Nigel P. Carter Néstor Castillo-Magallanes Maria Chiara E. Catenazzi Simon Chang Rachel Cooley Natasha R. Crake Olubunmi O. Dada Konstantinos D. Diakoumakos Belen Dominguez‐Fernandez David Earnshaw Ugonna C. Egbujor David W. Elmore Sergey S. Etchin Mark Ewan Milan Fedurco Louise Fraser Karin V. Fuentes Fajardo W. Scott Furey David George Kimberley J. Gietzen C Goddard George S. Golda Philip A. Granieri David E. Green David Gustafson Nancy F. Hansen Kevin Harnish Christian Haudenschild Narinder I. Heyer Matthew M. Hims Johnny T. Ho Adrian Horgan

DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence reference sequences for human and many other genomes makes it possible to develop new, fast approaches re-sequencing, whereby shorter reads are compared a identify intraspecies variation. Here we report an approach that generates several billion bases accurate nucleotide per...

10.1038/nature07517 article EN cc-by-nc-sa Nature 2008-11-01
Urmo Võsa Annique Claringbould Harm-Jan Westra Marc Jan Bonder Patrick Deelen and 95 more Biao Zeng Holger Kirsten Ashis Saha Roman Kreuzhuber Seyhan Yazar Harm Brugge Roy Oelen Dylan H. de Vries Monique G.P. van der Wijst Silva Kasela Natalia Pervjakova Isabel Alves Marie-Julie Favé Mawussé Agbessi Mark Christiansen Rick Jansen Ilkka Seppälä Tong Lin Alexander Teumer Katharina Schramm Gibran Hemani Joost Verlouw Hanieh Yaghootkar Reyhan Sönmez Flitman Andrew Brown Viktorija Kukushkina Anette Kalnapenkis Sina Rüeger Eleonora Porcu Jaanika Kronberg Johannes Kettunen Bernett Lee Futao Zhang Ting Qi José Alquicira-Hernández Wibowo Arindrarto Frank Beutner Peter A.C. ‘t Hoen Joyce B. J. van Meurs Jenny van Dongen Maarten van Iterson Morris A. Swertz Marc Jan Bonder Julia Dmitrieva Mahmoud Elansary Benjamin P. Fairfax Michel Georges Bastiaan T. Heijmans Alex W. Hewitt Mika Kähönen Yungil Kim Julian C. Knight Péter Kovács Knut Krohn Shuang� Li Markus Loeffler Urko M. Marigorta Hailang Mei Yukihide Momozawa Martina Müller‐Nurasyid Matthias Nauck Michel G. Nivard Brenda W.J.H. Penninx Jonathan K. Pritchard Olli T. Raitakari Olaf Rötzschke P. Eline Slagboom Coen D.A. Stehouwer Michael Stümvoll Patrick Sullivan Peter A.C. ‘t Hoen Joachim Thiery Anke Tönjes Jenny van Dongen Maarten van Iterson Jan H. Veldink Uwe Völker Robert Warmerdam Cisca Wijmenga Morris A. Swertz Anand Kumar Andiappan Grant W. Montgomery Samuli Ripatti Markus Perola Zoltán Kutalik Emmanouil T. Dermitzakis Sven Bergmann Timothy M. Frayling Joyce B. J. van Meurs Holger Prokisch Habibul Ahsan Brandon L. Pierce Terho Lehtimäki Dorret I. Boomsma Bruce M. Psaty

10.1038/s41588-021-00913-z article EN Nature Genetics 2021-09-01
Alvaro Barbeira Scott Dickinson Rodrigo Bonazzola Jiamao Zheng Heather E. Wheeler and 95 more Jason Torres Eric S. Torstenson Kaanan P. Shah Tzintzuni Garcia Todd L. Edwards Eli A. Stahl Laura M. Huckins François Aguet Kristin Ardlie Beryl B. Cummings Ellen Gelfand Gad Getz Kane Hadley Robert E. Handsaker Katherine Huang Seva Kashin Konrad J. Karczewski Monkol Lek Xiao Li Daniel G. MacArthur Jared L. Nedzel Duyen T. Nguyen Michael S. Noble Ayellet V. Segrè Casandra A. Trowbridge Taru Tukiainen Nathan S. Abell Brunilda Balliu Ruth Barshir Omer Basha Alexis Battle Gireesh K. Bogu Andrew Brown Christopher Brown Stephane E. Castel Lin Chen Colby Chiang Donald F. Conrad Farhan N. Damani Joe R. Davis Olivier Delaneau Emmanouil T. Dermitzakis Barbara E. Engelhardt Eleazar Eskin Pedro G. Ferreira Laure Frésard Eric R. Gamazon Diego Garrido-Martín Ariel DH Gewirtz Genna Gliner Michael J. Gloudemans Roderic Guigó Ira M. Hall Buhm Han Yuan He Farhad Hormozdiari Cédric Howald Brian Jo Eun Yong Kang Yungil Kim Sarah Kim-Hellmuth Tuuli Lappalainen Gen Li Xin Li Boxiang Liu Serghei Mangul Mark I. McCarthy Ian C. McDowell Pejman Mohammadi Jean Monlong Stephen B. Montgomery Manuel Muñoz-Aguirre Anne W. Ndungu Andrew B. Nobel Meritxell Oliva Halit Ongen John Palowitch Nikolaos Panousis Panagiotis Papasaikas YoSon Park Princy Parsana A. J. Payne Christine B. Peterson Jie Quan Ferrán Reverter Chiara Sabatti Ashis Saha Michael Sammeth Alexandra J. Scott Andrey A. Shabalin Reza Sodaei Matthew Stephens Barbara E. Stranger Benjamin J. Strober Jae Hoon Sul

Abstract Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy general robustness misspecified reference sets. We apply this framework 44 GTEx tissues 100+ from GWAS meta-analysis studies, creating growing public catalog of associations seeks capture the effects variation on human...

10.1038/s41467-018-03621-1 article EN cc-by Nature Communications 2018-05-02
Derrek P. Hibar Jason L. Stein Miguel E. Rentería Alejandro Arias Väsquez Sylvane Desrivières and 95 more Neda Jahanshad Roberto Toro Katharina Wittfeld Lucija Abramovic Micael Andersson Benjamin S. Aribisala Nicola J. Armstrong Manon Bernard Marc M. Bohlken Marco P. Boks Janita Bralten Andrew Brown M. Mallar Chakravarty Qiang Chen Christopher R. K. Ching Gabriel Cuéllar-Partida Anouk den Braber Sudheer Giddaluru Aaron L. Goldman O. Grimm Tulio Guadalupe Johanna Haß Girma Woldehawariat Avram J. Holmes Martine Hoogman Deborah Janowitz Tianye Jia Sungeun Kim Marieke Klein Bernd Kraemer Phil H. Lee Loes M. Olde Loohuis Michelle Luciano Christine Macare Karen A. Mather Manuel Mattheisen Yuri Milaneschi Kwangsik Nho Martina Papmeyer Adaikalavan Ramasamy Shannon L. Risacher Roberto Roiz‐Santiáñez Emma J. Rose Alireza Salami Philipp G. Sämann Lianne Schmaal Andrew J. Schork Jean Shin Lachlan T. Strike Alexander Teumer Marjolein M. J. van Donkelaar Kristel R. van Eijk James Walters Lars T. Westlye Christopher D. Whelan Anderson M. Winkler Marcel P. Zwiers Saud Alhusaini Lavinia Athanasiu Stefan Ehrlich Marina Hakobjan Cecilie B. Hartberg Unn K. Haukvik Angelien J.G.A.M. Heister David Hoehn Dalia Kasperavičiūtė David C. Liewald Lorna M. Lopez Remco R. Makkinje Mar Matarín Marlies Naber Dean McKay Margaret Needham Allison C. Nugent Benno Pütz Natalie A. Royle Li Shen Emma Sprooten Daniah Trabzuni Saskia S. L. van der Marel K.J.E. van Hulzen Esther Walton Christiane Wolf Laura Almasy David Ames Sampath Arepalli Amelia A. Assareh Mark E. Bastin Henry Brodaty Kazima Bulayeva Melanie A. Carless Sven Cichon Aiden Corvin Joanne E. Curran Michael Czisch

10.1038/nature14101 article EN Nature 2015-01-20
Jason L. Stein Sarah E. Medland Alejandro Arias Väsquez Derrek P. Hibar Rudy E Senstad and 95 more Anderson M. Winkler Roberto Toro Katja Appel Richard Barteček Ørjan Bergmann Manon Bernard Andrew Brown Dara M. Cannon M. Mallar Chakravarty Andrea Christoforou Martin Domín O. Grimm Marisa O. Hollinshead Avram J. Holmes Georg Homuth Jouke‐Jan Hottenga Camilla Langan Lorna M. Lopez Narelle K. Hansell Kristy Hwang Sungeun Kim Gonzalo Laje Phil H. Lee Xinmin Liu Eva Loth Anbarasu Lourdusamy Morten Mattingsdal Sebastian Mohnke Susana Muñoz Maniega Kwangsik Nho Allison C. Nugent Carol O’Brien Martina Papmeyer Benno Pütz Adaikalavan Ramasamy Jerod M. Rasmussen Mark Rijpkema Shannon L. Risacher J. Cooper Roddey Emma J. Rose Mina Ryten Li Shen Emma Sprooten Eric Strengman Alexander Teumer Daniah Trabzuni Jessica A. Turner Kristel van Eijk Theo G.M. van Erp Marie‐José van Tol Katharina Wittfeld Christiane Wolf Saskia Woudstra André Alemán Saud Alhusaini Laura Almasy Elisabeth B. Binder David G. Brohawn Rita M. Cantor Melanie A. Carless Aiden Corvin Michael Czisch Joanne E. Curran Gail Davies Marcio Almeida Norman Delanty Chantal Depondt Ravi Duggirala Thomas D. Dyer Susanne Erk Jesen Fagerness Peter T. Fox Nelson B. Freimer Michael Gill Harald H.H. Göring Donald J. Hagler David Hoehn Herta Flor Martine Hoogman Norbert Hosten Neda Jahanshad Matthew P. Johnson Dalia Kasperavičiūtė Jack W. Kent Peter Kochunov Jack L. Lancaster Stephen M. Lawrie David C. Liewald René C.W. Mandl Mar Matarín Manuel Mattheisen Eva Meisenzahl Ingrid Melle Eric K. Moses Thomas W. Mühleisen

10.1038/ng.2250 article EN Nature Genetics 2012-04-15
Urmo Võsa Annique Claringbould Harm-Jan Westra Marc Jan Bonder Patrick Deelen and 95 more Biao Zeng Holger Kirsten Ashis Saha Roman Kreuzhuber Silva Kasela Natalia Pervjakova Isabel Alvaes Marie-Julie Favé Mawussé Agbessi Mark Christiansen Rick Jansen Ilkka Seppälä Tong Lin Alexander Teumer Katharina Schramm Gibran Hemani Joost Verlouw Hanieh Yaghootkar Reyhan Sönmez Andrew Brown Viktorija Kukushkina Anette Kalnapenkis Sina Rüeger Eleonora Porcu Jaanika Kronberg-Guzman Johannes Kettunen Joseph E. Powell Bernett Lee Futao Zhang Wibowo Arindrarto Frank Beutner Harm Brugge Julia Dmitreva Mahmoud Elansary Benjamin P. Fairfax Michel Georges Bastiaan T. Heijmans Mika Kähönen Yungil Kim Julian C. Knight Péter Kovács Knut Krohn Shuang� Li Markus Loeffler Urko M. Marigorta Hailang Mei Yukihide Momozawa Martina Müller‐Nurasyid Matthias Nauck Michel G. Nivard Brenda W.J.H. Penninx Jonathan K. Pritchard Olli T. Raitakari Olaf Rotzchke P. Eline Slagboom Coen D.A. Stehouwer Michael Stümvoll Patrick Sullivan Peter A.C. ’t Hoen Joachim Thiery Anke Tönjes Jenny van Dongen Maarten van Iterson Jan H. Veldink Uwe Völker Cisca Wijmenga Morris A. Swertz Anand Kumar Andiappan Grant W. Montgomery Samuli Ripatti Markus Perola Zoltán Kutalik Emmanouil T. Dermitzakis Sven Bergmann Timothy M. Frayling Joyce B. J. van Meurs Holger Prokisch Habibul Ahsan Brandon L. Pierce Terho Lehtimäki Dorret I. Boomsma Bruce M. Psaty Sina A. Gharib Philip Awadalla Lili Milani Willem H. Ouwehand Kate Downes Oliver Stegle Alexis Battle Jian Yang Peter M. Visscher Markus Scholz Gregory Gibson Tõnu Esko Lude Franke

Summary While many disease-associated variants have been identified through genome-wide association studies, their downstream molecular consequences remain unclear. To identify these effects, we performed cis- and trans-expression quantitative trait locus (eQTL) analysis in blood from 31,684 individuals the eQTLGen Consortium. We observed that cis -eQTLs can be detected for 88% of studied genes, but they a different genetic architecture compared to variants, limiting our ability use pinpoint...

10.1101/447367 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2018-10-19
Meritxell Oliva Manuel Muñoz-Aguirre Sarah Kim-Hellmuth Valentin Wucher Ariel DH Gewirtz and 95 more Daniel J. Cotter Princy Parsana Silva Kasela Brunilda Balliu Ana Viñuela Stephane E. Castel Pejman Mohammadi François Aguet Yuxin Zou Ekaterina Khramtsova Andrew D. Skol Diego Garrido-Martín Ferrán Reverter Andrew Brown Patrick Evans Eric R. Gamazon A. J. Payne Rodrigo Bonazzola Alvaro Barbeira Andrew R. Hamel Ángel Martínez-Pérez José Manuel Soria Brandon L. Pierce Matthew Stephens Eleazar Eskin Emmanouil T. Dermitzakis Ayellet V. Segrè Hae Kyung Im Barbara E. Engelhardt Kristin Ardlie Stephen B. Montgomery Alexis Battle Tuuli Lappalainen Roderic Guigó Barbara E. Stranger François Aguet Shankara Anand Kristin Ardlie Stacey Gabriel Gad Getz Aaron Graubert Kane Hadley Robert E. Handsaker Katherine Huang Seva Kashin Xiao Li Daniel G. MacArthur Samuel R. Meier Jared L. Nedzel Duyen T. Nguyen Ayellet V. Segrè Ellen Todres Brunilda Balliu Alvaro Barbeira Alexis Battle Rodrigo Bonazzola Andrew Brown Christopher D. Brown Stephane E. Castel Donald F. Conrad Daniel J. Cotter Nancy J. Cox Sayantan Das Olivia M. de Goede Emmanouil T. Dermitzakis Jonah Einson Barbara E. Engelhardt Eleazar Eskin Tiffany Eulalio Nicole M. Ferraro Elise D. Flynn Laure Frésard Eric R. Gamazon Diego Garrido-Martín Nicole R. Gay Michael J. Gloudemans Roderic Guigó Andrew R. Hame Yuan He Paul Hoffman Farhad Hormozdiari Lei Hou Hae Kyung Im Brian Jo Silva Kasela Manolis Kellis Sarah Kim-Hellmuth Alan Kwong Tuuli Lappalainen Xin Li Yanyu Liang Serghei Mangul Pejman Mohammadi Stephen B. Montgomery Manuel Muñoz-Aguirre

Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex in gene expression and genetic regulation across 44 tissue sources surveyed by Genotype-Tissue Expression project (GTEx, v8 release). demonstrate that influences levels cellular composition samples body. A total 37% all genes sex-biased at least one tissue. identify cis quantitative trait loci (eQTLs)...

10.1126/science.aba3066 article EN Science 2020-09-10

In order to discover quantitative trait loci, multi-dimensional genomic datasets combining DNA-seq and ChiP-/RNA-seq require methods that rapidly correlate tens of thousands molecular phenotypes with millions genetic variants while appropriately controlling for multiple testing.We have developed FastQTL, a method implements popular cis-QTL mapping strategy in user- cluster-friendly tool. FastQTL also proposes an efficient permutation procedure control testing. The outcome permutations is...

10.1093/bioinformatics/btv722 article EN cc-by Bioinformatics 2015-12-26
Sarah Kim-Hellmuth François Aguet Meritxell Oliva Manuel Muñoz-Aguirre Silva Kasela and 95 more Valentin Wucher Stephane E. Castel Andrew R. Hamel Ana Viñuela Amy L. Roberts Serghei Mangul Xiaoquan Wen Gao Wang Alvaro Barbeira Diego Garrido-Martín Brian B. Nadel Yuxin Zou Rodrigo Bonazzola Jie Quan Andrew Brown Ángel Martínez-Pérez José Manuel Soria Gad Getz Emmanouil T. Dermitzakis Kerrin S. Small Matthew Stephens Hualin Simon Xi Hae Kyung Im Roderic Guigó Ayellet V. Segrè Barbara E. Stranger Kristin Ardlie Tuuli Lappalainen François Aguet Shankara Anand Kristin Ardlie Stacey Gabriel Gad Getz Aaron Graubert Kane Hadley Robert E. Handsaker Katherine Huang Seva Kashin Xiao Li Daniel G. MacArthur Samuel R. Meier Jared L. Nedzel Duyen T. Nguyen Ayellet V. Segrè Ellen Todres Brunilda Balliu Alvaro Barbeira Alexis Battle Rodrigo Bonazzola Andrew Brown Christopher D. Brown Stephane E. Castel Donald F. Conrad Daniel J. Cotter Nancy J. Cox Sayantan Das Olivia M. de Goede Emmanouil T. Dermitzakis Jonah Einson Barbara E. Engelhardt Eleazar Eskin Tiffany Eulalio Nicole M. Ferraro Elise D. Flynn Laure Frésard Eric R. Gamazon Diego Garrido-Martín Nicole R. Gay Michael J. Gloudemans Roderic Guigó Andrew R. Hame Yuan He Paul Hoffman Farhad Hormozdiari Lei Hou Hae Kyung Im Brian Jo Silva Kasela Manolis Kellis Sarah Kim-Hellmuth Alan Kwong Tuuli Lappalainen Xin Li Yanyu Liang Serghei Mangul Pejman Mohammadi Stephen B. Montgomery Manuel Muñoz-Aguirre Daniel Nachun Andrew B. Nobel Meritxell Oliva YoSon Park Yongjin Park Princy Parsana Abhiram Rao

Cell type composition, estimated from bulk tissue, maps the cellular specificity of genetic variants.

10.1126/science.aaz8528 article EN Science 2020-09-10

P- and E-selectins are adhesion molecules mediating the first step in leukocyte extravasation. Because their function is overlapping, we hypothesized that there might be a combined effect of these selectins on development atherosclerotic lesions. We bred E-selectin-double-deficient mice onto low-density lipoprotein receptor (LDLR)-deficient background (LDLR-/- P/E-/-) compared lesion to wild type for both P/E+/+). After 8 wk atherogenic diet, LDLR-/- P/E-/- developed fatty streaks aortic...

10.1172/jci3001 article EN Journal of Clinical Investigation 1998-07-01

10.1016/j.cell.2020.08.036 article EN publisher-specific-oa Cell 2020-09-10

Insulators are DNA sequences that control the interactions among genomic regulatory elements and act as chromatin boundaries. A thorough understanding of their location function is necessary to address complexities metazoan gene regulation. We studied by ChIP–chip genome-wide binding sites 6 insulator-associated proteins—dCTCF, CP190, BEAF-32, Su(Hw), Mod(mdg4), GAF—to obtain first comprehensive map insulator in Drosophila embryos. identify over 14,000 putative insulators, including all...

10.1371/journal.pgen.1000814 article EN cc-by PLoS Genetics 2010-01-14

Abstract Population scale studies combining genetic information with molecular phenotypes (for example, gene expression) have become a standard to dissect the effects of variants onto organismal phenotypes. These kinds data sets require powerful, fast and versatile methods able discover Quantitative Trait Loci (molQTL). Here we propose such solution, QTLtools, modular framework that contains multiple new well-established prepare data, proximal distal molQTLs and, finally, integrate them GWAS...

10.1038/ncomms15452 article EN cc-by Nature Communications 2017-05-18

Abstract Background Previous studies have demonstrated that gene expression levels change with age. These changes are hypothesized to influence the aging rate of an individual. We analyzed age in abdominal skin, subcutaneous adipose tissue and lymphoblastoid cell lines 856 female twins range 39-85 years. Additionally, we investigated genotypic variants involved genotype-by-age interactions understand how genomic regulation alters Results Using a linear mixed model, differential was...

10.1186/gb-2013-14-7-r75 article EN cc-by Genome biology 2013-07-26

Abstract The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues, and link these regulatory mechanisms trait disease associations. Here, we present analyses of v8 data, based 17,382 RNA-sequencing samples from 54 tissues 948 post-mortem donors. We comprehensively associations for gene expression splicing in cis trans , showing that are found almost all genes, describe underlying molecular their contribution...

10.1101/787903 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2019-10-03
Olivia M. de Goede Daniel Nachun Nicole M. Ferraro Michael J. Gloudemans Abhiram Rao and 95 more Craig Smail Tiffany Eulalio François Aguet Bernard Ng Jishu Xu Alvaro Barbeira Stephane E. Castel Sarah Kim-Hellmuth YoSon Park Alexandra J. Scott Benjamin J. Strober Christopher D. Brown Xiaoquan Wen Ira M. Hall Alexis Battle Tuuli Lappalainen Hae Kyung Im Kristin Ardlie Sara Mostafavi Thomas Quertermous Karla Kirkegaard Stephen B. Montgomery Shankara Anand Stacey Gabriel Gad Getz Aaron Graubert Kane Hadley Robert E. Handsaker Katherine Huang Xiao Li Daniel G. MacArthur Samuel R. Meier Jared L. Nedzel Duyen T. Nguyen Ayellet V. Segrè Ellen Todres Brunilda Balliu Rodrigo Bonazzola Andrew Brown Donald F. Conrad Daniel J. Cotter Nancy J. Cox Sayantan Das Emmanouil T. Dermitzakis Jonah Einson Barbara E. Engelhardt Eleazar Eskin Elise D. Flynn Laure Frésard Eric R. Gamazon Diego Garrido-Martín Nicole R. Gay Roderic Guigó Andrew R. Hamel Yuan He Paul Hoffman Farhad Hormozdiari Lei Hou Brian Jo Silva Kasela Seva Kashin Manolis Kellis Alan Kwong Xin Li Yanyu Liang Serghei Mangul Pejman Mohammadi Manuel Muñoz-Aguirre Andrew B. Nobel Meritxell Oliva Yong‐Jin Park Princy Parsana Ferrán Reverter John M. Rouhana Chiara Sabatti Ashis Saha Matthew Stephens Barbara E. Stranger Nicole A. Teran Ana Viñuela Gao Wang Fred A. Wright Valentin Wucher Yuxin Zou Pedro G. Ferreira Gen Li Marta Melé Esti Yeger‐Lotem Debra Bradbury Tanya Krubit Jeffrey A. McLean Liqun Qi Karna Robinson Nancy Roche Anna M. Smith

10.1016/j.cell.2021.03.050 article EN publisher-specific-oa Cell 2021-04-16

Genetic variants in cis-regulatory elements or trans-acting regulators commonly influence the quantity and spatiotemporal distribution of gene transcription. Recent interest expression quantitative trait locus (eQTL) mapping has paralleled adoption genome-wide association studies (GWAS) for analysis complex traits disease humans. Under hypothesis that many GWAS associations tag non-coding SNPs with small effects, these exert phenotypic control by modifying expression, it become common to...

10.1371/journal.pgen.1003649 article EN cc-by PLoS Genetics 2013-08-01
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