# Informatics Algorithms for Genomic Analysis of Brain Imaging Data

> **NIH NIH R01** · UNIVERSITY OF PENNSYLVANIA · 2020 · $350,706

## Abstract

Project Summary
 Brain imaging genetics studies the relationship between genetic variations and brain imaging quantitative
traits (QTs) and offers enormous potential to reveal the genetic underpinning of the neurobiological system that
can impact the development of diagnostic, therapeutic and preventative approaches for complex brain
disorders. Two critical gaps limiting the progress of brain imaging genetics include (1) the unprecedented scale
and complexity of the imaging genetic data sets, and (2) lack of intermediate-level omics data to capture the
molecular effects linking genetics to brain QTs. Our prior studies have contributed substantially to addressing
the first gap. The proposed project will develop new informatics strategies to bridge the second gap, where
valuable existing data in the omics domain will be leveraged to link brain imaging and genetics. In this project,
we will focus on transcriptomics, and will make use of major transcriptomics data repositories including
Genotype-Tissue Expression (GTEx) Project, UK Brain Expression Consortium (UKBEC), and Allen Human
Brain Atlas (AHBA). Our overarching goal is to identify brain imaging genetic associations with evidence
manifested in the human brain transcriptome. Our hypothesis is that, with additional source of evidence at the
transcriptomic level, the identified brain imaging genetic associations are biologically more meaningful and less
likely to be false positives. To achieve our goal, we propose four aims. Aim 1 is to develop novel bi-multivariate
models incorporating regional tissue-specific expression quantitative trait locus (eQTL) knowledge for mining
brain imaging genetic associations. Given that eQTL is a source of tissue-specific evidence to link genotype,
gene expression, and brain QTs, we will develop novel eQTL-guided bi-multivariate models to identify imaging
genetic associations potentially evidenced by regional tissue-specific eQTL knowledge. Aim 2 is to develop
novel bi-multivariate models incorporating brain-wide genome-wide (BWGW) cross-domain co-expression
patterns for mining brain imaging genetics associations. AHBA, a BWGW gene expression database, is a
natural connection between genome and brain. We propose to develop novel biclustering and bi-multivariate
methods to identify meaningful AHBA modules with cross-domain co-expression patterns, and use these
patterns to guide the search for co-expression-aware associations between genetic variations and multimodal
brain imaging measures. Aim 3 is to develop open source software tools for structure-aware mining of brain
imaging genetic associations. Aim 4 is to perform evaluation and validation on both simulated data and real
imaging genetics cohorts. Successful completion of the above aims will produce innovative informatics
methods and tools for integrative analysis of imaging, genetics and transcriptomics data to address a critical
barrier in brain imaging genetics. Using ADNI and related cohorts as test beds,...

## Key facts

- **NIH application ID:** 10065859
- **Project number:** 1R01LM013463-01
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Jason H. Moore
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $350,706
- **Award type:** 1
- **Project period:** 2020-07-01 → 2024-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10065859

## Citation

> US National Institutes of Health, RePORTER application 10065859, Informatics Algorithms for Genomic Analysis of Brain Imaging Data (1R01LM013463-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10065859. Licensed CC0.

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