# A portal and integrative collaborative analysis platform for GTEx

> **NIH NIH U41** · BROAD INSTITUTE, INC. · 2020 · $41,792

## Abstract

Project Summary Abstract: 
Our capability to apply high-throughput molecular profiling technologies to increasingly large cohorts and 
sample sets is significantly expanding our understanding of human biology and complex disease. The 
Genotype Tissue-Expression (GTEx) project is creating a unique resource of genetic variation and gene 
expression across a wide range of human tissues. Upon completion this will include RNA sequence data 
from over 25,000 samples spanning 53 human tissues/organs and whole genome and exome sequence 
data from 960 donors. Additional data types not yet generated will include miRNA-seq, protein levels, 
DNA methylation, ChIP-seq, and DNase I hypersensitive site data among others. The ability to easily 
access, interpret and integrate these large data sets by a wide range of users with varying needs and 
skills is becoming of critical importance to leverage the full utility of the data. The GTEx Portal 
(http://gtexportal.org/) is the most widely accessed resource for the GTEx project, hosting all 
unprotected data, analysis results and numerous visual exploration tools, and has been enthusiastically 
received by the scientific community. To maximize the impact of this resource, we plan to expand the 
portal to: host data currently in production and new data types still to be generated; present novel and 
integrative analyses of existing data, and data from external sources; and to develop and share flexible 
tools for data analysis, visualization and access. Aim 1. We will host and support all open-access GTEx 
data and analysis results, performing systematic re-analyses of the data with new methods to reflect the 
state-of-the-art in RNA-seq analysis. We will add all new data sets to the portal to include novel assays 
(e.g. mi-RNA-seq, protein, methylation assays, etc/), derived analysis results (e.g. trans-eQTLs, splice- 
QTLs, GWAS enrichment analyses, protein-QTLs, etc.), and RNA-seq data sets from external 
investigators. Aim 2. We will work closely with both small focus groups of tool developers and engage 
our large user-base to identify and prioritize new features for development to display and integrate 
between multiple data types, and collaborate with other large genomic resources (e.g. ENCODE, UCSC 
and ENSEMBL browsers) to enable better integration of data sources and to enhance the utility and 
accessibility of the GTEx resource. Aim 3. We will automate and share all analysis pipeline tools with 
the scientific community. To support a wide range of user access needs, we will develop an open-source 
API to provide comprehensive data access, and also improve visualization tools and user-driven data 
analyses on the portal. To maximize use of the resource, we will design and offer training videos and 
outreach workshops.

## Key facts

- **NIH application ID:** 9938667
- **Project number:** 5U41HG009494-04
- **Recipient organization:** BROAD INSTITUTE, INC.
- **Principal Investigator:** KRISTIN ARDLIE
- **Activity code:** U41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $41,792
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9938667

## Citation

> US National Institutes of Health, RePORTER application 9938667, A portal and integrative collaborative analysis platform for GTEx (5U41HG009494-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9938667. Licensed CC0.

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