User profiles for Alvaro Barbeira
 | Alvaro BarbeiraThe University of Chicago Verified email at uchicago.edu Cited by 6881 |
[HTML][HTML] Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
AN Barbeira, SP Dickinson, R Bonazzola… - Nature …, 2018 - nature.com
Scalable, integrative methods to understand mechanisms that link genetic variants with
phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a …
phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a …
[HTML][HTML] Opportunities and challenges for transcriptome-wide association studies
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this Perspective…
(GWAS) and gene expression datasets to identify gene–trait associations. In this Perspective…
Annotation-free quantification of RNA splicing using LeafCutter
The excision of introns from pre-mRNA is an essential step in mRNA processing. We
developed LeafCutter to study sample and population variation in intron splicing. LeafCutter …
developed LeafCutter to study sample and population variation in intron splicing. LeafCutter …
The impact of sex on gene expression across human tissues
…, ER Gamazon, A Payne, R Bonazzola, AN Barbeira… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-differentiated
characteristics. These sex differences have been variously attributed to hormones, …
characteristics. These sex differences have been variously attributed to hormones, …
[PDF][PDF] A quantitative proteome map of the human body
Determining protein levels in each tissue and how they compare with RNA levels is important
for understanding human biology and disease as well as regulatory processes that control …
for understanding human biology and disease as well as regulatory processes that control …
[HTML][HTML] Integrating predicted transcriptome from multiple tissues improves association detection
Integration of genome-wide association studies (GWAS) and expression quantitative trait
loci (eQTL) studies is needed to improve our understanding of the biological mechanisms …
loci (eQTL) studies is needed to improve our understanding of the biological mechanisms …
Cell type–specific genetic regulation of gene expression across human tissues
INTRODUCTION Efforts to map quantitative trait loci (QTLs) across human tissues by the GTEx
Consortium and others have identified expression and splicing QTLs (eQTLs and sQTLs, …
Consortium and others have identified expression and splicing QTLs (eQTLs and sQTLs, …
[PDF][PDF] Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
Long non-coding RNA (lncRNA) genes have well-established and important impacts on
molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a …
molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a …
[HTML][HTML] Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …
advance our understanding of the biology of human diseases. Here, we present an in-depth …
Transcriptomic signatures across human tissues identify functional rare genetic variation
INTRODUCTION The human genome contains tens of thousands of rare (minor allele frequency
<1%) variants, some of which contribute to disease risk. Using 838 samples with whole-…
<1%) variants, some of which contribute to disease risk. Using 838 samples with whole-…