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Tools for Normalizing and Interpreting the Clinical Actionability of Genomic Variants

Award Number: R00HG010157
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 07/02/2021
PERIOD OF PERFORMANCE END DATE: 04/30/2024

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Tools for Normalizing and Interpreting the Clinical Actionability of Genomic Variants - PROJECT SUMMARY/ABSTRACT The availability of high-throughput, low-cost sequencing has transformed the landscape of biomedical research by dramatically expanding our capacity to interrogate the sequence of the human genome. Consequently, there has been an explosion of biomedical literature describing the role of specific genomic variants and their impact on human diseases. These advances are bringing sequencing into the clinic to shape clinical practice from the patient’s genomic content, a paradigm colloquially referred to as genomic or precision medicine. There remain many obstacles to fully realizing our potential in the era of precision medicine. Among them is a recognized need for robust, well-engineered systems that provide knowledge about genomic variants and their role in disease. Ideally, such systems would provide a comprehensive summary of all knowledge that is relevant to the patient’s unique genomic content. An early bottleneck to realizing precision medicine was that, despite the substantial literature and several established knowledgebases that define interactions between drugs and genes, querying across them was extremely challenging. In response to this need, the Drug-Gene Interaction database (DGIdb, dgidb.org) was developed. Through a combination of automated processing and manual curation, drug-gene interaction information was collected, structured, and connected (normalized) from these diverse sources of data and entered into a database with a user-friendly search interface and an application programming interface (API). However, linking drug and drug-gene interaction concepts across resources remains an extremely challenging task, and aggregated drug-gene interactions are also challenging to represent in a way that highlights the utility of the collected knowledge for precision medicine efforts. This proposal seeks to improve our ability to normalize and interpret drug-gene interactions corresponding to patient genomic variants. We will achieve this goal through two specific aims. First, the DGIdb normalization routines will be improved through incorporation of new content and features. Among these, the DGIdb will support collections of drugs, including combination therapies and drug classes. Also, the DGIdb will have new community submission and curation features, allowing users to incorporate new knowledge into the database. Second, the Variant Interpretation Aggregator database (VIAdb) will be created to normalize knowledge across several disparate sources focused on the clinical interpretations of genomic variants. The VIAdb will operate as a stand-alone web tool and API and will behave as a source of relevant interpretations to DGIdb. Finally, we will develop techniques for automated identification of drug-gene interactions and variant interpretation consensus to assist community curation efforts. If successful, this research will improve breadth and consistency of variant interpretations and drug-gene interactions for precision medicine efforts.


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: 2024 ( Subtotal = -$505 )
2024	2023	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Human Genome Research	000	6	9/11/2024	NON-COMPETING CONTINUATION	-$505
														Subtotal = -$505

Issue Date FY: 2023 ( Subtotal = $235,720 )
2023	2023	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Human Genome Research	000	6	4/19/2023	NON-COMPETING CONTINUATION	$235,720
														Subtotal = $235,720

Issue Date FY: 2022 ( Subtotal = $245,721 )
2022	2022	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Human Genome Research	001	5	5/6/2022	NON-COMPETING CONTINUATION	$242,459
2022	2021	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Human Genome Research	000	4	12/4/2021	EXTENSION WITH OR WITHOUT FUNDS	$3,262
														Subtotal = $245,721

Issue Date FY: 2021 ( Subtotal = $249,000 )
2021	2021	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Human Genome Research	000	4	7/2/2021	EXTENSION WITH OR WITHOUT FUNDS	$249,000
														Subtotal = $249,000

Grand Total All Awards = $729,936

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Tools for Normalizing and Interpreting the Clinical Actionability of Genomic Variants

Award Number: R00HG010157

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 07/02/2021

PERIOD OF PERFORMANCE END DATE: 04/30/2024

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