Project Grant R21HG014015
- This $993,446 Project Grant award from the National Human Genome Research Institute (CFDA 93.172 Human Genome Research) supports the development of statistical and machine learning approaches to decode the regulatory activity underlying disease variants, link variants to genes in relevant cell types, and identify disease-critical cooperative programs of genes and genomic elements. The goal is to produce computational tools and workflows that can identify and rank functionally disease-critical...
- This $400,000 Project Grant award from the National Human Genome Research Institute (NHGRI) under CFDA 93.172 "Human Genome Research" will support a research program at Brigham & Women's Hospital to develop advanced computational methods for accurately identifying and genotyping structural variants within large genetic biobank datasets. The key objectives of the work are to: 1) create haplotype-informed algorithms to improve detection sensitivity and genotyping accuracy for...
- This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $501,618 to the Dana-Farber Cancer Institute, Inc. (DFCI) to develop new computational tools for accurately calling germline and mosaic sequence variations, including variants from long RNA-seq reads, mosaic structural variants, and integrated small and structural variants. The project aims to address critical gaps in existing long-read variant calling tools by creating...
- Brigham & Women's Hospital Inc. was awarded a $300,000 Project Grant from the National Human Genome Research Institute (CFDA 93.172 Human Genome Research) to develop computational and experimental approaches to better stratify the risk of rare genetic variants associated with monogenic diseases. The project aims to leverage large disease cohorts and national biobanks, along with cost-effective variant assays, to integrate clinical phenotyping data and functional assessment to improve the...
- This $130,680 Project Grant award was provided by the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) to The Children's Hospital Corporation, doing business as Boston Children's Hospital, from July 1, 2025 to June 30, 2027. The award supports the development of computational technologies for single-cell functional genomics. The key objectives are to: 1) Develop computational frameworks with deep learning models to decode the epigenetic response of cells to...
- The National Human Genome Research Institute (NHGRI) awarded a $457,920 Project Grant (CFDA #93.172 - Human Genome Research) to The Broad Institute, Inc. to develop a deep reinforcement learning framework for haplotype assembly. Haplotype assembly is critical for understanding human population genetics and disease, as it reconstructs the combination of alleles on maternally and paternally inherited chromosome copies. The Broad Institute, a renowned biomedical and genomic research organization,...
- The National Human Genome Research Institute (NHGRI), under the CFDA program 93.172 Human Genome Research, awarded a $1,100,866 Project Grant to the Icahn School of Medicine at Mount Sinai. The grant, awarded on April 8, 2025, is to develop new methods using deep learning to predict disease risk for individuals harboring rare monogenic risk alleles. The goal is to refine the accuracy of genetic diagnostics and increase the clinical usefulness of genetic information. The project will leverage...
- The University of Washington was awarded a $2,217,249 federal Project Grant from the National Human Genome Research Institute (CFDA 93.172 Human Genome Research) on September 10, 2025 to develop advanced sequence-to-function (S2F) deep learning models that can accurately predict the subtle gene expression consequences arising from natural genetic variations. The project aims to address two key challenges: 1) current models struggle to generalize across diverse genotypes found in personal...
- This Cooperative Agreement award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $3,073,346.00 to support a project titled "PATIENT CENTERED PREDICTION OF CLINICALLY IMPORTANT OUTCOMES ARISING FROM PATHOGENIC VARIANTS" at Vanderbilt University Medical Center. The project aims to develop a machine learning/artificial intelligence tool that can predict the likelihood of disease development in individuals who carry a pathogenic genetic...
- The National Human Genome Research Institute (NHGRI) awarded a $812,957 Project Grant under the Human Genome Research program (CFDA 93.172) to The University of Texas Southwestern Medical Center in Dallas, TX. The grant, with a project period from January 1, 2025 to December 31, 2029, aims to develop a framework of principles to provide practical guidance on variant reinterpretation, reclassification, and recontact in the evolving field of genomic medicine. The project involves qualitative...
This Project Grant award of $240,647 from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) supports research by Brigham & Women's Hospital Inc. to develop deep learning methods for resolving uncertain variant classifications from genomic sequencing data. The project aims to use clinical reports and variant data from the ClinVar database to train text classification models that can better predict pathogenicity of genetic variants. This will enhance the value of the ClinVar public resource used by researchers and clinicians for genomic medicine. The award runs from September 1, 2025 to August 31, 2027 and is part of the broader NHGRI program supporting the development of genomic resources, technologies, and computational methods to advance the application of genomics to medical research and clinical care.
Mod # | Description | ReasonForModification | Federal Obligation | Date |
|---|---|---|---|---|
| Not listed | $240.6k | 8/15/25 |