Search Results
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… and clinical implementations? • Genome -wide genotyping • GWAS • Clinical implementation Pilots • GWAS • Sequencing • Clinical implementation • GWAS ELSI … equence and PH enotypeIN tegration E x change) + • Search catalog by genes, drugs, rsIDand pathways • For each gene …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
…  Mills, M.C. and Rahal, C., (2020). ‘The GWAS Diversity Monitor tracks diversity by disease in real … heavily to represent individuals of European ancestry ( GWAS Diversity Monitor 2023 ). This lack of diversity fails …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… the development of genome-wide association studies (GWAS), phenome-wide association studies (PheWAS), … and exploration of the impact of rare disease variants. GWAS evaluates the association of millions of genetic …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… Resources , ClinGen , FlyBase , GENCODE , GO , gnomAD , GWAS Catalog , HGNC , MGD , PharmGKB , Reactome , SGD , UCSC … Elements ( ENCODE ) project, which sought to decipher the catalog of functional elements in the human genome. During …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… represents the largest atlas of human gene expression and catalog of trait loci to date. …
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 2020.
… Genetics Initiative 25 Genome-Wide Association Studies (GWAS) Catalog 26 Phenotypes and Exposures (PhenX) Toolkit PhenX …
Event
On May 19-20, 2016, the National Human Genome Research Institute (NHGRI) hosted a two-day workshop where participants were asked to weigh the benefits and risks of sharing aggregate genomic data with secondary users.
… NIH Background Fact Sheet on GWAS Policy Update Workshop on Establishing a Central …
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… Document 28  4 th phase of ENCODE grants  Expand the catalog  NEW Functional Characterization Centers Funded … Center for Dynamic RNA Epitranscriptomes Document 29 GWAS Catalog  Nature commentary highlights GWAS Catalog data Document 30  Updated, comprehensive …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… (IGNITE) Network, and the NHGRI Genome-Wide Association Catalog . Dr. Manolio came to NHGRI from NIH's National … M, Flicek P, Manolio T, Parkinson H, Hindorff L. The NHGRI GWAS catalog, a curated resource of SNP-trait associations. …
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 …