scispace - formally typeset
A

Alvaro N. Barbeira

Researcher at University of Chicago

Publications -  49
Citations -  6980

Alvaro N. Barbeira is an academic researcher from University of Chicago. The author has contributed to research in topics: Expression quantitative trait loci & Genome-wide association study. The author has an hindex of 20, co-authored 47 publications receiving 3032 citations. Previous affiliations of Alvaro N. Barbeira include Instituto Tecnológico de Buenos Aires.

Papers
More filters
Journal ArticleDOI

The GTEx Consortium atlas of genetic regulatory effects across human tissues

François Aguet, +167 more
- 01 Jan 2020 - 
Posted ContentDOI

The GTEx Consortium atlas of genetic regulatory effects across human tissues

TL;DR: Analysis of the v8 data provides insights into the tissue-specificity of genetic effects, and shows that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.
Journal ArticleDOI

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

Alvaro N. Barbeira, +263 more
TL;DR: A mathematical expression is derived to compute PrediXcan results using summary data, and the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes are investigated.
Journal ArticleDOI

Opportunities and challenges for transcriptome-wide association studies.

TL;DR: Property of TWAS is explored as a potential approach to prioritize causal genes at GWAS loci, by using simulations and case studies of literature-curated candidate causal genes for schizophrenia, low-density-lipoprotein cholesterol and Crohn’s disease.
Journal ArticleDOI

Annotation-free quantification of RNA splicing using LeafCutter.

TL;DR: LeafCutter is a new tool that identifies variable intron splicing events from RNA-seq data for analysis of complex alternative splicing and does not require transcript annotation and can be used to map splicing quantitative trait loci.