Tuesday, February 17, 2026 2/17/2026

Utilizing Bayesian modeling to improve mutational signature inference in large-scale datasets

Award Number: U01CA253500
ORGANIZATION: NATIONAL CANCER INSTITUTE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/17/2021
PERIOD OF PERFORMANCE END DATE: 08/31/2025

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Utilizing Bayesian modeling to improve mutational signature inference in large-scale datasets - The goals of this proposal are to develop novel statistical methods, more accurate inference procedures, and interactive software tools to perform mutational signature deconvolution in cancer samples. Mutational signatures are patterns of co-occurring mutations that can reveal insights into a cancer's etiology and evolution. Currently, non-negative matrix factorization (NMF) is the “gold-standard” for mutational signature deconvolution. However, NMF has several deficiencies in that it cannot do the following things: 1) predict signatures in new samples, 2) perform joint learning of known and novel signatures at the same time, 3) alleviate problems from signature “bleeding”, 4) cluster tumors into subgroups based on mutational signature profiles, and 5) characterize uncertainty in model fit. In this proposal, we will develop a novel Bayesian hierarchical models that overcome the limitations of NMF. Furthermore, there is a lack of interactive software for mutational signature inference and visualization for non-computational users. We will also develop an R/Shiny interface on top of our R package to facilitate data preprocessing, inference, and visualization of large-scale datasets. This interface will have a cloud backend to facilitate computationally intensive operations. Overall, this software will streamline mutational signature analysis for noncomputational researchers and will have the capability to interface with other projects from the Informatics Technology for Cancer Research (ITCR) program. Finally, we will analyze a novel targeted sequencing dataset from Chinese patients and perform a meta-analysis of all publicly available variants to generate a novel reference set of mutational signatures for investigators to use in their own studies. Overall, our tools will be of great interest to the cancer community as it will provide greater insights into mutational signature patterns and will be useful in clinical settings to reveal insights into cancer etiology.


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 = -$1 )
2026	2023	TRUSTEES OF BOSTON UNIVERSITY	85 EAST NEWTON ST # M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	000	3	12/22/2025	NON-COMPETING CONTINUATION	-$1
														Subtotal = -$1

Issue Date FY: 2024 ( Subtotal = $0 )
2024	2023	TRUSTEES OF BOSTON UNIVERSITY	85 EAST NEWTON ST # M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	000	3	2/2/2024	NON-COMPETING CONTINUATION	$0
2024	2023	TRUSTEES OF BOSTON UNIVERSITY	85 EAST NEWTON ST # M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	001	3	6/19/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2023 ( Subtotal = $401,084 )
2023	2023	TRUSTEES OF BOSTON UNIVERSITY	85 EAST NEWTON ST # M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	002	3	8/23/2023	NON-COMPETING CONTINUATION	$401,084
2023	2022	TRUSTEES OF BOSTON UNIVERSITY	85 E NEWTON ST M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	001	2	2/3/2023	NON-COMPETING CONTINUATION	$0
2023	2022	TRUSTEES OF BOSTON UNIVERSITY	85 E NEWTON ST M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	000	2	1/11/2023	NON-COMPETING CONTINUATION	$0
														Subtotal = $401,084

Issue Date FY: 2022 ( Subtotal = $402,634 )
2022	2022	TRUSTEES OF BOSTON UNIVERSITY	85 E NEWTON ST M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	000	2	8/16/2022	NON-COMPETING CONTINUATION	$402,634
														Subtotal = $402,634

Issue Date FY: 2021 ( Subtotal = $401,917 )
2021	2021	TRUSTEES OF BOSTON UNIVERSITY	85 E NEWTON ST M-921	BOSTON	MA	02118	SUFFOLK	USA	Cancer Biology Research	000	1	9/17/2021	NEW	$401,917
														Subtotal = $401,917

Grand Total All Awards = $1,205,634

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Utilizing Bayesian modeling to improve mutational signature inference in large-scale datasets

Award Number: U01CA253500

ORGANIZATION: NATIONAL CANCER INSTITUTE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 09/17/2021

PERIOD OF PERFORMANCE END DATE: 08/31/2025

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