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Analysis of Somatic Mutations in Longitudinal Whole-genome Sequencing Data

Award Number: R00HG011657
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 07/01/2023
PERIOD OF PERFORMANCE END DATE: 01/31/2027

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Analysis of Somatic Mutations in Longitudinal Whole-genome Sequencing Data - PROJECT SUMMARY While recent efforts have focused on better understanding the germline mutation rate of different types of DNA variants, the dynamics of somatic mutations in the human genome are poorly understood. Somatic mutations are a well-known cause of cancer and may play a causative role in other diseases and aging. Analyses of somatic mutations have generally been limited to single-cell or low-coverage studies. To accurately assess the rate of somatic mutations over time would require a longitudinal, high coverage dataset. For ~450 individuals in the Utah CEPH (Centre d'Etude du Polymorphism Humain) pedigrees, blood was drawn at two timepoints approximately 15 years apart. This proposal describes experiments to determine the rate of somatic mutations throughout the human genome by utilizing high-coverage (720x) whole-genome sequencing data at both of these timepoints in a subset of CEPH individuals. The genomes included in this study will be used to determine the rate of somatic mutations and improve our understanding of differences in this rate between individuals. Building on previous work performed at the University of Utah, we will determine the relationship between the germline and somatic mutation rate. Further, using detailed phenotypic data collected for these individuals, experiments will be performed to determine how this rate is correlated with disease outcomes such as cancer and cardiovascular disease. From this work, a series of filtering algorithms will be produced to allow for comprehensive analysis of somatic mutations occurring between two timepoints in the same individual. This dataset provides me with a unique opportunity to study somatic mutations over time using high-quality data. This proposal builds upon my experience in analyzing mobile element-mediated somatic mutations in longitudinal whole-genome data of cancer patients, and my recent work analyzing germline short tandem repeat mutations in the CEPH pedigrees. The K99 portion of this project will focus on determining the rate of somatic mutations in longitudinal, high-coverage whole-genome sequencing data while creating filtering algorithms to improve our detection capabilities. The additional training I will receive during this period will lay the foundation of an independent research program that will determine the significance of somatic mutations in the human genome and how these relate to disease outcomes.


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 = $249,000 )
2026	2026	UNIVERSITY OF KENTUCKY RESEARCH FOUNDATION, THE	500 S LIMESTONE	LEXINGTON	KY	40526	FAYETTE	USA	Human Genome Research	000	5	3/2/2026	NON-COMPETING CONTINUATION	$249,000
														Subtotal = $249,000

Issue Date FY: 2025 ( Subtotal = $0 )
2025	2024	UNIVERSITY OF KENTUCKY RESEARCH FOUNDATION, THE	500 S LIMESTONE	LEXINGTON	KY	40526	FAYETTE	USA	Human Genome Research	000	4	9/12/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $249,000 )
2024	2024	UNIVERSITY OF KENTUCKY RESEARCH FOUNDATION, THE	500 S LIMESTONE	LEXINGTON	KY	40526	FAYETTE	USA	Human Genome Research	000	4	9/10/2024	NON-COMPETING CONTINUATION	$249,000
														Subtotal = $249,000

Issue Date FY: 2023 ( Subtotal = $249,000 )
2023	2023	UNIVERSITY OF KENTUCKY RESEARCH FOUNDATION, THE	500 S LIMESTONE 109 KINKEAD HALL	LEXINGTON	KY	40526	FAYETTE	USA	Human Genome Research	000	3	6/26/2023	EXTENSION WITH OR WITHOUT FUNDS	$249,000
														Subtotal = $249,000

Grand Total All Awards = $747,000

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Analysis of Somatic Mutations in Longitudinal Whole-genome Sequencing Data

Award Number: R00HG011657

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 07/01/2023

PERIOD OF PERFORMANCE END DATE: 01/31/2027

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