# 1/2 Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain development

> **NIH NIH U01** · YALE UNIVERSITY · 2021 · $688,239

## Abstract

ABSTRACT
Functional genomic analyses of the developing human brain have revealed highly dynamic spatiotemporal
patterns of gene expression and epigenetic changes during prenatal and early postnatal development and across
brain regions. Disruptions of these developmentally dynamic processes have been implicated by numerous
complementary analyses in the etiology of multiple neurodevelopmental and neuropsychiatric disorders.
Expression quantitative trait loci (eQTLs), along with splicing quantitative trait loci (sQTLs) and structural variant
quantitative trait loci (svQTLs), are genomic variants that differ between individuals, with these differences
correlating with functional changes to gene expression or splicing behavior. Many of these QTLs show specificity
to tissues, brain regions, developmental stages, or cell types, and a proportion overlap with known genetic risk
factors of human disorders. Here, we propose to pursue three integrated Aims, including whole-genome
sequencing and both bulk tissue and single-nuclei RNA sequencing, to identify genomic variants,
eQTL/sQTL/svQTLs, and patterns of gene expression and co-expression in two regions of the human brain
across mid-fetal development through to adolescence. In addition, we will apply novel and newly developed
computational tools to associate these QTLs with specific cell types and loci or genes implicated in
neuropsychiatric disorders. By so doing we will augment, and dramatically expand upon, earlier efforts to
understand QTLs and their roles in neural development, function, and neuropsychiatric disorders.

## Key facts

- **NIH application ID:** 9948364
- **Project number:** 1U01MH122678-01
- **Recipient organization:** YALE UNIVERSITY
- **Principal Investigator:** NENAD SESTAN
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $688,239
- **Award type:** 1
- **Project period:** 2021-02-01 → 2025-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9948364

## Citation

> US National Institutes of Health, RePORTER application 9948364, 1/2 Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain development (1U01MH122678-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9948364. Licensed CC0.

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