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News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… scientists have used genome-wide association studies (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of people with and without a … containing variants that affect disease risk. Although GWAS may find hundreds of variants that appear to be …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… will analyze DNA and RNA from the samples to identify and catalog genomic variants and gene expression. For the last … scientists have used genome-wide association studies (GWAS) to study the role that genomic variation plays in complex diseases and traits. In GWAS, researchers compare thousands of genomic variants in …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… is the first study to use a Genome-Wide Association Study (GWAS) to investigate the genomic basis of obesity in … Chen, M.D., study co-lead and a CRGGH staff scientist. A GWAS compares the genomes of people with and without a health … the condition. Most previous studies on obesity using a GWAS have been conducted with populations of European …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… the NHGRI Training and Career Development Programs, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases … in genomics studies, with application to the NHGRI-EBI GWAS Catalog. Genome Biol . 19(1):21. 2018. [ PubMed ] …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… functional datasets generated by the IGVF consortium with GWAS and constrained datasets to (1) improve functionally … and computational genomic approaches to build a catalog of the impact of genomic variants on genome function … genome function  Generation of a resource centered on a catalog of variant impacts and including data, tools, and …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… added. One such tool - the genome-wide association study (GWAS), in which researchers compare variants found in the …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… answer period. Registration is required. …  The NHGRI-EBI GWAS Catalog is celebrating its 15th birthday this year. The … the number of published genome-wide association studies (GWAS). These studies provide an unprecedented opportunity to …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… to population of interest Integration of existing GWAS sets PRS reassessment and validation Recruitment, … genomic variation. These genome wide association studies (GWAS) conducted with EMR data helped pave the way for other … using the EMR. From 2011 to 2015, while still conducting GWAS, the Network began returning genomic testing results …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… team and as a Senior Scientific Curator for the NHGRI-EBI GWAS Catalog. Prior to that, Dr. Morales served as a Team Leader …
The Genomics Landscape
In the April 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 15th anniversary of National DNA Day and the '15 for 15' Celebration.
… Another important anniversary relates to the heavily used GWAS Catalog, which celebrates its 10th birthday on April 28. The GWAS Catalog  is a curated resource containing published data …