Search Results
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 …
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 …
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
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 …
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 …
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 …
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 …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… Expression (GTEx) Consortium, established to catalog how genomic variation influences how genes are turned … levels. The authors of the study used GTEx data to catalog all known eQTLs in the human genome for the first …