# Exploring the role of genetic structural variation in neuropsychiatric diseases

> **NIH NIH F31** · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · 2020 · $45,520

## Abstract

Project Summary
Neuropsychiatric conditions such as Autism Spectrum Disorder (ASD), schizophrenia (SCZ), and bipolar
disorder (BP) are among the most common long-term diseases in US adults. Genetics play an important role in
these conditions, and structural variants (SVs) – chromosomal rearrangements impacting at least 50 base
pairs of the genome – contribute particularly to the genetic risk of these diseases. Yet only a small minority of
SVs present in the human population has been accounted for in current studies. The goal of this project is to
more fully explore the role of SVs in neuropsychiatric conditions.
This work leverages the recent creation of two key data sources: 1) extensive catalogues of human structural
variation by the 1000 Genomes Project, Genome Aggregation Database, and other projects and 2) the
collection of genotyping data in large neuropsychiatric case-control studies by the Psychiatric Genomics
Consortium among others. The statistical genetic principles of haplotype phasing and imputation provide the
framework to integrate these two resources. I will develop phase-based and imputation-based methods to
detect post-zygotic mosaic copy number variations (CNVs) and population polymorphic SVs in genotyping
intensity data. By applying these methods in neuropsychiatric case-control cohorts, I will: (i) identify post-
zygotic mosaic copy number variants (CNVs) in individuals with ASD; (ii) identify polymorphic SVs in
individuals with ASD, SCZ, and BP; and (iii) determine mosaic CNVs and polymorphic SVs that increase risk
for neuropsychiatric disorders.
Successful completion of these aims will result in a more complete understanding of the role of SVs in
neuropsychiatric conditions; indeed, the SVs I will investigate in this project account for much of the genetic
diversity in the human population. Furthermore, the computational tools I will develop will be applicable to
study other human diseases. These tools will be made publicly available to the research community.
Characterizing the role of SVs in neuropsychiatric and other medical conditions will contribute to our
understanding of the genetic architectures of these diseases. Long-term, this may help detect at-risk
populations, contribute to diagnosis, and ultimately aid in treatment.

## Key facts

- **NIH application ID:** 10068348
- **Project number:** 1F31MH124393-01
- **Recipient organization:** MASSACHUSETTS INSTITUTE OF TECHNOLOGY
- **Principal Investigator:** Maxwell Aaron Sherman
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $45,520
- **Award type:** 1
- **Project period:** 2020-09-01 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10068348

## Citation

> US National Institutes of Health, RePORTER application 10068348, Exploring the role of genetic structural variation in neuropsychiatric diseases (1F31MH124393-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10068348. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*