This Project Grant award from the National Institute of General Medical Sciences (NIGMS), under the Biomedical Research and Research Training (CFDA 93.859) federal grant program, provides $401,914 to support research on the evolutionary and functional impact of common genomic structural variations. The 5-year project, beginning February 1, 2025, will focus on three key research areas: Investigating the mutational mechanisms shaping the size, functional impact, and genomic distribution of...
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 $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 award from the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865) supports research to assess variants of uncertain significance in the intellectual disability gene ANKRD17. The $265,500 award to The Children's Hospital Corporation (dba Boston Children's Hospital) will fund an efficient and innovative strategy to evaluate variants in ANKRD17, a gene that causes...
This federal Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $1,305,419 to The Regents of the University of California, San Francisco (UCSF) to extend the utility and performance of variant effect predictors using protein language models. The key objectives are to: Enhance the core functionality of variant effect prediction (VEP) models by providing robust estimates of score uncertainty and experimentally validating whole...
This Project Grant award of $311,000 from the National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), will fund the development of comprehensive de novo variant (DNV) callsets for the Gabriella Miller Kids First Pediatric Research Program's birth defects dataset. The key products to be delivered under this 2-year award include: 1) Identification of new genes involved in birth defects through the...
This Project Grant award from the National Institutes of Health (CFDA 93.310 - Trans-NIH Research Support) provides $308,799 to The Leland Stanford Junior University (Stanford University) to conduct a comprehensive investigation of the molecular pathways and mechanisms by which exercise induces systemic health benefits. The key objectives are to: 1) Generate and identify exercise-induced molecules (exerkines) and their receptors across 17 organs using a unique multi-modal, multi-organ dataset...
This federal Project Grant award of $154,880 from the National Institute of Child Health and Human Development (NICHD), under CFDA 93.865 Child Health and Human Development Extramural Research, supports a 2-year research study on the effects of exercise interventions on neurobiology, social cognition, and systemic inflammation in adolescents with autism spectrum disorder (ASD). The key objectives of the study are to determine if a 10-week exercise intervention, compared to a social gaming...
This Project Grant award from the National Institutes of Health (NIH) Office of the Director under the Trans-NIH Research Support program (CFDA 93.310) provides $345,799 to Beth Israel Deaconess Medical Center, Inc. (Bidmc) for a research project titled "Integrative Analysis of Genomics and Proteomics to Identify Candidate Molecular Transducers of Cardiorespiratory Fitness." The project aims to leverage multi-omics data, including whole genome sequencing and large-scale plasma...
The National Institute of General Medical Sciences (NIGMS) awarded a 5-year, $1,112,418 Project Grant (CFDA 93.859 - Biomedical Research and Research Training) to the University of Kansas Center for Research Inc. The goal of this research is to identify specific genetic loci involved in complex trait variation affecting fitness in natural populations. The project will integrate studies of tissue-specific gene regulation, surveys in natural populations, and new sequencing/computational approaches...