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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… (e.g., height), or molecular traits (e.g., mRNA or protein expression levels). Examples of these kinds of statistics …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… and imaging-based methods that are used in spatial gene-expression profiling. A virtual symposium entitled “ …
The Genomics Landscape
In the November 5, 2020 edition of The Genomics Landscape, Dr. Eric Green focuses on the 2020 Strategic Vision.
… more common, informed consent is changing Scientists use gene therapy and a novel light-sensing protein to restore … hearts of some college athletes Rogue antibodies and gene mutations explain some cases of severe COVID-19 NIH to … Utilizing in vitro functional genomics advances for gene-environment (G x E) discovery and validation Ruth L. …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… of one single nucleotide polymorphism (SNP) in one gene, FMR1 , and showing a link between this SNP and the … privacy; genomics research with indigenous communities; gene therapies; and the integration of visual arts in ELSI …
Outreach
Frequently asked questions about National DNA Day - a unique day when students, teachers, and the public can learn more about genetics and genomics.
The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched … As of February 1, 2019, ClinGen has classified 670 gene-disease pairs. ClinGen is primarily funded by the NHGRI, … trials to test several new treatments for MMA. … The Gene Ontology (GO) Resource, one of the founding members of …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… Our investigators and their research teams develop gene addition therapy and gene editing approaches to treat metabolic disorders, study … programs of single cells and explore the side-effects of gene therapy. The MMB is invested in mentorship and supports …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Around that time, NISC also participated in the Mammalian Gene Collection (MGC), a program that generated high-quality … Cells (MorPhiC) , which will systematically catalog human gene function. The program comprises five awards totaling … genes and characterize the phenotypic impact of loss of gene function at a molecular and cellular level. If …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… allowed our investigators to develop clinical trials for gene therapy of immune deficiency and preclinical development of gene therapy for metabolic disorders. In addition, our …