A novel graph approach to resolve challenging and medically relevant regions in the human genome
About This Grant
Abstract Despite improved human genome references, like the T2T and Human Pangenome References, limitations of short-read sequencing and inadequate tools preclude routine characterization of medically relevant complex regions like LPA, HLA, and GBA. This includes ‘graph genome’ methods, which have not yet been effectively applied to the characterization of clinically important, complex genes. We will develop a novel user-friendly and intuitive local graph approach that will be applied to resolve these critical genomic regions and yet accessible to non-specialists who wish to study complex regions of the human genome. A graph genome will be built from ~15,000 long-read genome assemblies from existing data from NIH Programs (All of Us, HPRC) and 50 locally generated long-read assemblies from a Cardiovascular Risk study (HeartCare) and then benchmarked and validated against existing references and methods. This graph will allow us to utilize existing short-read data to deepen our insights into the variation in LPA and its complex hypervariable Kringle IV type 2 (KIV-2) region, where additional variants potentially impact cardiovascular disease (CVD) risk. Newly assessed LPA variants will be analyzed for association with deep phenotypic measurements across 30,000 WGS and positive findings will greatly impact the application of LPA testing outside European populations. We will also apply our graph genome methods across larger data sets from TOPMed and All of US to assess around 1000 challenging but medically significant genes, including the American College of Medical Genetics Secondary Findings Gene List (73 genes), 132 HLA genes, and a further 395 clinically relevant genes, providing the most comprehensive annotated variant catalog of its kind. We will work with individual investigators (ARIC, SOL, All of US, GREGOR, TOPMed) to further validate the pathogenicity of newly identified variants, across multiple genetic diseases. We will also work with the TOPMed IRC to include these variants in imputation servers (BRAVO). Overall, this proposal will enable the use of graph genomes at scale and demonstrate their utility, impacting both the assessment of CVD risk across different populations and providing new information for multiple other diseases.
Grant Summary
A novel graph approach to resolve challenging and medically relevant regions in the human genome is a NHGRI - National Human Genome Research Institute grant providing up to $720K for university, nonprofit, healthcare org. Applications are due 2030-02-28 (open). Check eligibility and apply with FindGrants.
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Eligibility
How to Apply
Up to $720K
2030-02-28
- 1Confirm your organization is eligible for A novel graph approach to resolve challenging and medically relevant regions in the human genome from NHGRI - National Human Genome Research Institute, checking organization type, location, and any population or project requirements.
- 2Gather the required documents and information, including your organization details, project plan, and budget figures.
- 3Draft your application narrative and budget addressing the funder's priorities and review criteria. FindGrants can draft each section for you to review and edit.
- 4Review every section against the requirements checklist, then export a submission-ready application pack and submit it to NHGRI - National Human Genome Research Institute before the deadline.
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A novel graph approach to resolve challenging and medically relevant regions in the human genome: Frequently Asked Questions
Who is eligible for the A novel graph approach to resolve challenging and medically relevant regions in the human genome?
A novel graph approach to resolve challenging and medically relevant regions in the human genome is offered by NHGRI - National Human Genome Research Institute and is generally open to university, nonprofit, healthcare org. It is open to organizations nationwide unless the funder specifies otherwise. Review the specific eligibility terms before applying, since funders set their own requirements around organization type, location, and the population or project being served.
How much funding does the A novel graph approach to resolve challenging and medically relevant regions in the human genome provide?
A novel graph approach to resolve challenging and medically relevant regions in the human genome provides up to $720K per award from NHGRI - National Human Genome Research Institute. Actual award sizes depend on the scope of your project, available program funds, and the number of applicants, so build a budget that reflects realistic, allowable costs rather than the maximum figure.
When is the A novel graph approach to resolve challenging and medically relevant regions in the human genome deadline?
Applications for A novel graph approach to resolve challenging and medically relevant regions in the human genome are due 2030-02-28 (open). Because deadlines can change, verify the date with the funder, NHGRI - National Human Genome Research Institute, and give yourself enough time to prepare a complete, competitive application before the close date.
How do you apply for the A novel graph approach to resolve challenging and medically relevant regions in the human genome?
To apply for A novel graph approach to resolve challenging and medically relevant regions in the human genome, confirm your eligibility, gather the required documents, and prepare a narrative and budget that address the funder's priorities. FindGrants guides you step by step and can draft each section, then exports a submission-ready application pack for this grant from NHGRI - National Human Genome Research Institute.