Search Results
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 … GWAS Catalog Turns 10 …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… Data Sharing Governance Committees. Data use under the NIH GWAS data sharing policy and future directions. Nat Genet , … (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources. Eur J Hum Genet , … TA, Rodriguez LL. A mechanism for controlled access to GWAS data: experience of the GAIN Data Access Committee. Am J …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… datasets can be used for genome-wide association studies (GWAS) that identify specific genomic factors associated with human health and disease. NIH implemented the GWAS Policy  in 2008, requiring data from NIH-funded GWAS to be shared with the research community in a central …
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 …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… reveals context-specific e/caQTL and extensive caQTL-GWAS colocalization Board No. PB3049 Stephen Parker … cell types, genes, and regualtory element contexts at T1D GWAS loci Catherine Robertson Convention Center, West Hall … Platform Integrating transciptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… research studies, called genome-wide association studies (GWAS) are an approach that involves rapidly scanning markers … genetic variations associated with a particular disease. GWAS have been able to identify genetic variations that …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… interpreting variation is a genome-wide association study (GWAS), in which the genomes of thousands of people with and … Stanford University Integration of functional data and GWAS to elucidate genetic basis of disease R01 HG008140 …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2023.
… and Knowledgebases 25 Genome-Wide Association Studies (GWAS) Catalog GWAS Catalog Website The Genomics Landscape Story Featuring …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing … Project data is for genome-wide association studies (GWAS), which compare the genomes of people with and without a …