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Illuminating the role of structural variants in the genetic architecture of autism spectrum disorder

Award Number: F31MH141823
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 09/01/2026
PERIOD OF PERFORMANCE END DATE: 08/31/2028

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Illuminating the role of structural variants in the genetic architecture of autism spectrum disorder - Abstract Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder affecting approximately 2.3% of children in the United States. While much of the genetic risk for ASD has been found to result from small additive effects of common variants across the genome, rare and de novo variants also significantly contribute to risk in many cases. These previous insights into the genetics of ASD have mostly arisen from studies limited to single nucleotide variants and small insertions and deletions. Consequently, structural variants (SVs) represent a largely untapped reservoir of variation with high relative risk that can provide novel insights into the genetic risk factors of ASD. Moreover, a technical revolution is emerging in genomics from long read whole genome sequencing (lrWGS), which enables near complete genetic variation ascertainment but remains limited to small cohorts and esoteric analytic methods. Recently developed pangenome-based tools such as KAGE can translate these discoveries to the scale of ASD association studies by genotyping SVs from lrWGS haplotypes into short read WGS (srWGS) samples, although previous studies have not yet completed the substantial research and benchmarking required to achieve this goal. In this fellowship, I will leverage state-of-the-art SV discovery pipelines and callsets to integrate novel classes of genetic variation into ASD association analyses. In Aim 1, I will use srWGS to genotype all classes of SVs into over 12,000 ASD families, uncover novel ASD risk genes, and identify components of ASD genetic risk shared with other neuropsychiatric disorders. And in Aim 2, I will comprehensively benchmark the performance of KAGE before using this tool to genotype lrWGS SVs into over 40,000 srWGS ASD case and control samples and examine how these newly accessible classes of genetic variation contribute to ASD risk. Collectively, these analyses aim to provide novel insights into the genetic architecture of ASD while also establishing the first thoroughly benchmarked, scalable approach for genotyping lrWGS-derived SVs into srWGS cohorts. Finally, in parallel with these research goals, an outstanding team of five mentors across multiple disciplines, career stages, and institutions will contribute didactic training, hands-on research support, career advice, and regular presentation opportunities throughout this fellowship to support my Ph.D. training in bioinformatics, statistical genetics, SV genotyping, and the biological mechanisms of ASD.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $38,235 )
2026	2026	PRESIDENT AND FELLOWS OF HARVARD COLLEGE	25 SHATTUCK ST	BOSTON	MA	02115	SUFFOLK	USA	Mental Health Research Grants	000	1	7/24/2026	NEW	$38,235
2026	2026	PRESIDENT AND FELLOWS OF HARVARD COLLEGE	25 SHATTUCK ST	BOSTON	MA	02115	SUFFOLK	USA	Mental Health Research Grants	001	1	7/24/2026	NEW	$0
														Subtotal = $38,235

Grand Total All Awards = $38,235

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Illuminating the role of structural variants in the genetic architecture of autism spectrum disorder

Award Number: F31MH141823

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 09/01/2026

PERIOD OF PERFORMANCE END DATE: 08/31/2028

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