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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 …
About Genomics
RNA sequencing and the detection of RNA modifications have recently gained significant attention in the genomics community. New genomic methods and technologies are still needed to advance basic and clinical research into human biology and disease.
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… Career Development Programs, Loan Repayment Program, 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 …