Out of the sequencer and into the wiki as we face new challenges in genome informatics

por Ning, Zemin, Montgomery, Stephen B
Publicado 2010

Detection and Impact of Rare Regulatory Variants in Human Disease

por Li, Xin, Montgomery, Stephen B.
Publicado 2013

Diagnosing rare diseases after the exome

por Frésard, Laure, Montgomery, Stephen B.
Publicado 2018

Performance of genomic medicine

por Karczewski, Konrad J, Montgomery, Stephen B
Publicado 2013

SplicePlot: a utility for visualizing splicing quantitative trait loci

por Wu, Eric, Nance, Tracy, Montgomery, Stephen B.
Publicado 2014

Toward transcriptomics as a primary tool for rare disease investigation

por Montgomery, Stephen B., Bernstein, Jonathan A., Wheeler, Matthew T.
Publicado 2022

Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes

por Montgomery, Stephen B., Lappalainen, Tuuli, Gutierrez-Arcelus, Maria, Dermitzakis, Emmanouil T.
Publicado 2011

Deep learning-assisted genome-wide characterization of massively parallel reporter assays

por Lu, Fred, Sossin, Aaron, Abell, Nathan, Montgomery, Stephen B, He, Zihuai
Publicado 2022

High-Resolution Transcriptome Analysis with Long-Read RNA Sequencing

por Cho, Hyunghoon, Davis, Joe, Li, Xin, Smith, Kevin S., Battle, Alexis, Montgomery, Stephen B.
Publicado 2014

A Survey of Genomic Properties for the Detection of Regulatory Polymorphisms

por Montgomery, Stephen B, Griffith, Obi L, Schuetz, Johanna M, Brooks-Wilson, Angela, Jones, Steven J. M
Publicado 2007

Genotype-Based Test in Mapping Cis-Regulatory Variants from Allele-Specific Expression Data

por Lefebvre, Jean Francois, Vello, Emilio, Ge, Bing, Montgomery, Stephen B., Dermitzakis, Emmanouil T., Pastinen, Tomi, Labuda, Damian
Publicado 2012

Normalizing RNA-Sequencing Data by Modeling Hidden Covariates with Prior Knowledge

por Mostafavi, Sara, Battle, Alexis, Zhu, Xiaowei, Urban, Alexander E., Levinson, Douglas, Montgomery, Stephen B., Koller, Daphne
Publicado 2013

Quantifying RNA allelic ratios by microfluidics-based multiplex PCR and deep sequencing

por Zhang, Rui, Li, Xin, Ramaswami, Gokul, Smith, Kevin S, Turecki, Gustavo, Montgomery, Stephen B, Li, Jin Billy
Publicado 2013

Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations

por Nica, Alexandra C., Montgomery, Stephen B., Dimas, Antigone S., Stranger, Barbara E., Beazley, Claude, Barroso, Inês, Dermitzakis, Emmanouil T.
Publicado 2010

The role of Sp140 revealed in IgE and mast cell responses in Collaborative Cross mice

por Matsushita, Kazufumi, Li, Xin, Nakamura, Yuki, Dong, Danyue, Mukai, Kaori, Tsai, Mindy, Montgomery, Stephen B., Galli, Stephen J.
Publicado 2021

Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies

por Yang, Tsun-Po, Beazley, Claude, Montgomery, Stephen B., Dimas, Antigone S., Gutierrez-Arcelus, Maria, Stranger, Barbara E., Deloukas, Panos, Dermitzakis, Emmanouil T.
Publicado 2010

Text-mining assisted regulatory annotation

por Aerts, Stein, Haeussler, Maximilian, van Vooren, Steven, Griffith, Obi L, Hulpiau, Paco, Jones, Steven JM, Montgomery, Stephen B, Bergman, Casey M
Publicado 2008

ORegAnno 3.0: a community-driven resource for curated regulatory annotation

por Lesurf, Robert, Cotto, Kelsy C., Wang, Grace, Griffith, Malachi, Kasaian, Katayoon, Jones, Steven J. M., Montgomery, Stephen B., Griffith, Obi L.
Publicado 2016

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

por Gottlieb, Assaf, Daneshjou, Roxana, DeGorter, Marianne, Bourgeois, Stephane, Svensson, Peter J., Wadelius, Mia, Deloukas, Panos, Montgomery, Stephen B., Altman, Russ B.
Publicado 2017

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

por Tsang, Emily K., Abell, Nathan S., Li, Xin, Anaya, Vanessa, Karczewski, Konrad J., Knowles, David A., Sierra, Raymond G., Smith, Kevin S., Montgomery, Stephen B.
Publicado 2016