Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.
… in particular the uses of genome-wide association studies (GWAS) to identity genomic variants associated with complex … about the Earth BioGenome Project , an effort to sequence, catalog, and characterize the genomes of all of Earth’s …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Selection for Genome-Wide Association Studies (ComPaSS-GWAS) An ad-hoc alternative to replication that can reduce …
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 …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine 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 …
File
… there# is#significant#value#both#to#catalog#genomic#function al#elements#in#an#unbiased# … Indeed,#one#lesson #learned#from#GWAS# is#that#the#candidate#disease # associations#were#n … human variation, e.g., brought to light by GWAS studies ● The organization and architectural principles …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… field right now is characterizing the rapidly growing catalog of genomic variants with unknown functions,” says … working collectively to integrate this information into a catalog of variant impacts, including standards, data, tools … field right now is characterizing the rapidly growing catalog of genomic variants with unknown functions. …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… Complex Disease Working Group and the Polygenic Score Catalog (PGS), an open database of polygenic risk scores — … on reporting standards by ClinGen and the Polygenic Score Catalog comes at a crucial time for polygenic risk scores," … site of the ClinGen consortium, led this effort. The PGS Catalog is funded by the EMBL European Bioinformatics …
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
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… 2007, the goal of modENCODE is to create a comprehensive catalog of functional elements in the fruit fly and roundworm … (ENCODE) Project, which is building a comprehensive catalog of functional elements in the human and mouse …
Research Funding
The Non-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 …