Project Grant R43HG010446

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...

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...

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...

The National Human Genome Research Institute (NHGRI) awarded a $291,232 Project Grant to Micropure Genomics Inc. on September 17, 2025 under the Human Genome Research Federal Grant Program (CFDA 93.172). The project aims to develop an automated, bead-less, and gel-less microfluidic size selection approach to simplify workflows, reduce costs, and enhance the performance of long-read DNA sequencing technologies such as PacBio and Oxford Nanopore. The proposed innovation, called mPREP, leverages...

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 federal Project Grant, awarded by the National Human Genome Research Institute (NHGRI) under the Human Genome Research program (CFDA 93.172), aims to enhance the utility and performance of variant effect predictors (VEPs) through the use of protein language models (PLMs). The $1,305,419 grant awarded to the University of California, San Francisco on January 6, 2025 supports a 5-year research project with the following key objectives: Enhancing VEP models by providing robust estimates of...

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...

This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $400,618 to Care Progress LLC to develop an AI-powered chatbot tool that will enhance guideline-concordant genetic e-consults for primary care physicians (PCPs). The key products to be delivered include: Methods to integrate large language models with clinical genetics practice guidelines to generate semi-automated, quality e-consult recommendations for PCPs on when to...

This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $452,375 to The Trustees of Columbia University in the City of New York to develop a platform for rapid and efficient generation of multi-site sequence variants using template-guided gene synthesis. The project aims to advance this synthesis approach by optimizing predictive algorithms, experimental protocols, and robotic automation to produce kilobase-sized DNA constructs up...

The National Human Genome Research Institute (NHGRI), under the Human Genome Research federal grant program (CFDA 93.172), awarded a $383,748 project grant to Jumpcode Genomics Inc. The grant supports the development of a CRISPR-based depletion technology to resolve pseudogene contamination in next-generation sequencing (NGS)-based genetic testing, with a focus on improving newborn screening (NBS) clinical tests. The goal is to enhance the sensitivity and specificity of detecting disease-causing...