Detection and impact of rare regulatory variants in human disease

by Xin eLi, Stephen B Montgomery
Published 2013-05-01

Rare and common regulatory variation in population-scale sequenced human genomes.

by Stephen B Montgomery, Tuuli Lappalainen, Maria Gutierrez-Arcelus, Emmanouil T Dermitzakis
Published 2011-07-01

High-resolution transcriptome analysis with long-read RNA sequencing.

by Hyunghoon Cho, Joe Davis, Xin Li, Kevin S Smith, Alexis Battle, Stephen B Montgomery
Published 2014-01-01

Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge.

by Sara Mostafavi, Alexis Battle, Xiaowei Zhu, Alexander E Urban, Douglas Levinson, Stephen B Montgomery, Daphne Koller
Published 2013-01-01

A survey of genomic properties for the detection of regulatory polymorphisms.

by Stephen B Montgomery, Obi L Griffith, Johanna M Schuetz, Angela Brooks-Wilson, Steven J M Jones
Published 2007-06-01

Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.

by Jean Francois Lefebvre, Emilio Vello, Bing Ge, Stephen B Montgomery, Emmanouil T Dermitzakis, Tomi Pastinen, Damian Labuda
Published 2012-01-01

Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

by Alexandra C Nica, Stephen B Montgomery, Antigone S Dimas, Barbara E Stranger, Claude Beazley, Inês Barroso, Emmanouil T Dermitzakis
Published 2010-04-01

Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans

by Assaf Gottlieb, Roxana Daneshjou, Marianne DeGorter, Stephane Bourgeois, Peter J. Svensson, Mia Wadelius, Panos Deloukas, Stephen B. Montgomery, Russ B. Altman
Published 2017-11-01

Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export

by Emily K. Tsang, Nathan S. Abell, Xin Li, Vanessa Anaya, Konrad J. Karczewski, David A. Knowles, Raymond G. Sierra, Kevin S. Smith, Stephen B. Montgomery
Published 2017-01-01

Transcriptome analysis reveals differential splicing events in IPF lung tissue.

by Tracy Nance, Kevin S Smith, Vanessa Anaya, Rhea Richardson, Lawrence Ho, Mauro Pala, Sara Mostafavi, Alexis Battle, Carol Feghali-Bostwick, Glenn Rosen, Stephen B Montgomery
Published 2014-01-01

Transcriptome analysis reveals differential splicing events in IPF lung tissue.

by Tracy Nance, Kevin S Smith, Vanessa Anaya, Rhea Richardson, Lawrence Ho, Mauro Pala, Sara Mostafavi, Alexis Battle, Carol Feghali-Bostwick, Glenn Rosen, Stephen B Montgomery
Published 2014-01-01

Allelic expression of deleterious protein-coding variants across human tissues.

by Kimberly R Kukurba, Rui Zhang, Xin Li, Kevin S Smith, David A Knowles, Meng How Tan, Robert Piskol, Monkol Lek, Michael Snyder, Daniel G Macarthur, Jin Billy Li, Stephen B Montgomery
Published 2014-05-01

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture.

by Alicia R Martin, Helio A Costa, Tuuli Lappalainen, Brenna M Henn, Jeffrey M Kidd, Muh-Ching Yee, Fabian Grubert, Howard M Cann, Michael Snyder, Stephen B Montgomery, Carlos D Bustamante
Published 2014-08-01

Cis and trans effects of human genomic variants on gene expression.

by Julien Bryois, Alfonso Buil, David M Evans, John P Kemp, Stephen B Montgomery, Donald F Conrad, Karen M Ho, Susan Ring, Matthew Hurles, Panos Deloukas, George Davey Smith, Emmanouil T Dermitzakis
Published 2014-07-01

A TNFRSF14-FcɛRI-mast cell pathway contributes to development of multiple features of asthma pathology in mice

by Riccardo Sibilano, Nicolas Gaudenzio, Marianne K. DeGorter, Laurent L. Reber, Joseph D. Hernandez, Philipp M. Starkl, Oliwia W. Zurek, Mindy Tsai, Sonja Zahner, Stephen B. Montgomery, Axel Roers, Mitchell Kronenberg, Mang Yu, Stephen J. Galli
Published 2016-12-01

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

by David Jakubosky, Erin N. Smith, Matteo D’Antonio, Marc Jan Bonder, William W. Young Greenwald, Agnieszka D’Antonio-Chronowska, Hiroko Matsui, i2QTL Consortium, Oliver Stegle, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Published 2020-06-01

Genetic regulation of gene expression and splicing during a 10-year period of human aging

by Brunilda Balliu, Matthew Durrant, Olivia de Goede, Nathan Abell, Xin Li, Boxiang Liu, Michael J. Gloudemans, Naomi L. Cook, Kevin S. Smith, David A. Knowles, Mauro Pala, Francesco Cucca, David Schlessinger, Siddhartha Jaiswal, Chiara Sabatti, Lars Lind, Erik Ingelsson, Stephen B. Montgomery
Published 2019-11-01

Patterns of cis regulatory variation in diverse human populations.

by Barbara E Stranger, Stephen B Montgomery, Antigone S Dimas, Leopold Parts, Oliver Stegle, Catherine E Ingle, Magda Sekowska, George Davey Smith, David Evans, Maria Gutierrez-Arcelus, Alkes Price, Towfique Raj, James Nisbett, Alexandra C Nica, Claude Beazley, Richard Durbin, Panos Deloukas, Emmanouil T Dermitzakis
Published 2012-01-01

Properties of structural variants and short tandem repeats associated with gene expression and complex traits

by David Jakubosky, Matteo D’Antonio, Marc Jan Bonder, Craig Smail, Margaret K. R. Donovan, William W. Young Greenwald, Hiroko Matsui, i2QTL Consortium, Agnieszka D’Antonio-Chronowska, Oliver Stegle, Erin N. Smith, Stephen B. Montgomery, Christopher DeBoever, Kelly A. Frazer
Published 2020-06-01

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

by Maria Gutierrez-Arcelus, Tuuli Lappalainen, Stephen B Montgomery, Alfonso Buil, Halit Ongen, Alisa Yurovsky, Julien Bryois, Thomas Giger, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Ismael Padioleau, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E Antonarakis, Emmanouil T Dermitzakis
Published 2013-06-01