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The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics

Award Number: U24HG011449
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/20/2021
PERIOD OF PERFORMANCE END DATE: 06/30/2030

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The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics - PROJECT SUMMARY/ABSTRACT To improve diagnostic yield for rare diseases, we developed the Human Phenotype Ontology (HPO) in 2008 as a comprehensive bioinformatic resource that provides a standardized terminology of phenotypic abnormalities for the analysis of human diseases. The HPO is a computational model of the manifestations of human disease that is globally used to support genomic diagnostics in rare-disease medicine and related fields. In the previous funding period, we automated the HPO development, maintenance, and release processes, and substantially increased the amount of terms and curated data. In addition, we introduced the Medical Action Ontology (MAxO), a complementary resource to describe diagnostic and therapeutic clinical actions. The HPO is now used by a growing international community for annotating individuals with rare diseases, to support genomic diagnostics by prioritizing genes and variants, for extracting standardized data from electronic healthcare records (EHR), to support genotype-phenotype correlation analysis, and for a wide range of artificial-intelligence (AI) algorithms. The growth of the HPO community around the world is documented by translations into Asian, European, African and Australian languages contributed by the community. To continue to support this community, it is necessary to create new disease models as new rare diseases are described and to further expand the comprehensiveness and depth of HPO annotations for diseases. This project (“HPO: Advancing Computational Integration of Clinical Data for Genomics”), will maintain and advance HPO resources to address the needs of a growing number of medical disciplines that have adopted the HPO. We will achieve this goal by 1) expanding the coverage of HPO and MAxO for Mendelian and other rare diseases; 2) leveraging the new Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema, to provide greatly increased depth of data for genomic research and diagnostics and deliver a foundation for computational analysis of genotype-phenotype correlations and patient stratification; 3) developing algorithmic approaches that link ontology-term based curation with novel AI algorithms including large-language models to efficiently find and curate the published literature for HPO and MAxO; and 4) disseminating the HPO and HPO-based methods to existing and new users. The HPO is a key component of current international strategies for genomic diagnostics. Our project will advance its development and adoption and thereby enhance the capacity of global health systems to diagnose rare diseases, improve patient outcomes, and ultimately transform public health.


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 = $2,922,568 )
2026	2026	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	002	6	7/7/2026	COMPETING CONTINUATION	$2,922,568
2026	2025	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	000	5	4/7/2026	NON-COMPETING CONTINUATION	$0
2026	2025	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	001	5	6/25/2026	NON-COMPETING CONTINUATION	$0
														Subtotal = $2,922,568

Issue Date FY: 2025 ( Subtotal = $811,824 )
2025	2025	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	000	5	8/28/2025	NON-COMPETING CONTINUATION	$811,824
														Subtotal = $811,824

Issue Date FY: 2024 ( Subtotal = $745,481 )
2024	2024	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	001	4	8/8/2024	NON-COMPETING CONTINUATION	$723,820
2024	2023	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	000	3	8/6/2024	NON-COMPETING CONTINUATION	$21,661
														Subtotal = $745,481

Issue Date FY: 2023 ( Subtotal = $738,592 )
2023	2023	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	001	3	7/31/2023	NON-COMPETING CONTINUATION	$738,592
2023	2022	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	000	2	1/18/2023	NON-COMPETING CONTINUATION	$0
														Subtotal = $738,592

Issue Date FY: 2022 ( Subtotal = $738,592 )
2022	2022	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	000	2	8/10/2022	NON-COMPETING CONTINUATION	$738,592
2022	2022	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	001	2	8/19/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $738,592

Issue Date FY: 2021 ( Subtotal = $776,417 )
2021	2021	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Human Genome Research	000	1	9/20/2021	NEW	$776,417
														Subtotal = $776,417

Grand Total All Awards = $6,733,474

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The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics

Award Number: U24HG011449

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 09/20/2021

PERIOD OF PERFORMANCE END DATE: 06/30/2030

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