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… DNA Is Important For Disease And Evolution • About 90% of GWAS findings lie outside of protein-coding regions • … 8 Goals of ENCODE 3 • Expand towards completion the catalog of functional elements in human and mouse genomes – …
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 …
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 September 2021.
… and Data Science (R01) 19 Genome-Wide Association Studies (GWAS) Catalog 20 Polygenic Risk Methods in Diverse Populations …
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… 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 …
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 …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
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
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 …
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 …