Project Grant R43HG011602

This Project Grant award from the National Human Genome Research Institute (NHGRI), under the Human Genome Research federal grant program (CFDA 93.172), provides $757,157 to the University of California, San Diego (UC San Diego) to develop complementary experimental and computational strategies for high-throughput characterization of the impact of genetic variants. The key objectives are to: 1) Develop a method called SCBE-SEQ that combines genome editing with single-cell sequencing to...

The National Human Genome Research Institute (NHGRI), under the Human Genome Research Federal Grant Program (CFDA 93.172), awarded a $384,418 Project Grant to Xgenomes Corp. on September 25, 2024 to develop a revolutionary DNA sequencing platform. The project aims to create a super-resolution single-molecule sequencing technology that can read short sequence "words" rather than individual nucleotides, enabling one or more orders of magnitude improvements in accuracy and cost over...

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...

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) awarded Dana-Farber Cancer Institute, Inc. a Project Grant totaling $501,618 under the Human Genome Research program (CFDA 93.172) effective September 1, 2025, through June 30, 2029. This grant supports the development of advanced computational tools for variant calling from long genomic and RNA sequencing reads. The primary deliverables include: (1) a novel variant caller for identifying germline variants, mosaic mutations, and RNA editing...

This Project Grant award from the National Institutes of Health's National Human Genome Research Institute provided $768,678 to Molecular Assemblies, Inc. to develop a fully enzymatic oligonucleotide synthesis cycle using engineered template-independent polymerases and a novel phosphate dNTP blocking group. The award supports the goals of the Human Genome Research program (CFDA 93.172) to accelerate genome research and its application to human health. Specifically, the awardee will engineer...

This federal Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $172,584 to Vanderbilt University Medical Center (VUMC) to develop and validate a high-throughput, multimodal strategy to improve the classification of genetic variants associated with Mendelian diseases. The key products and services to be delivered include: 1) Developing and validating cardiovascular gene-specific phenotype risk scores (PHERs) using large,...

The National Human Genome Research Institute (NHGRI) awarded a $435,406 Project Grant (CFDA 93.172 - Human Genome Research) to the University of Colorado-Denver to explore new strategies for inferring protein-level changes from mRNA abundance measurements. The 2-year project aims to develop conceptual embeddings of proteins that capture information on protein-protein interaction networks and protein sequence, domain, and structure. These embeddings will be evaluated for their utility in...

The U.S. National Human Genome Research Institute (NHGRI) awarded a $1,696,968 Cooperative Agreement grant (CFDA 93.172 - Human Genome Research) to the University of California, Santa Cruz to develop novel computational methods and software tools for analyzing pangenomic data, with a focus on improving the accuracy and efficiency of variant calling and genotyping, particularly for complex structural variants. The grant, titled "Tools for Comprehensive Variant Characterization Using the...

The National Human Genome Research Institute (NHGRI), under the Human Genome Research Federal Grant Program (CFDA 93.172), awarded Evizia Inc. a $1,234,692 Project Grant on April 7, 2025 to develop a novel instrument and consumables for quality control in next-generation sequencing (NGS). The award supports Evizia's PRECYSE biomolecule desktop imaging system, which utilizes high-speed atomic force microscopy to provide rapid, sensitive, and cost-effective quality control for NGS sample...