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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… and Screening Marc S. Williams Geisinger Clinic Real-Time Genetic Diagnosis at the Point of Care **Eric A. Boerwinkle …
Archive
… Genetic Association Information Network (GAIN) … Archive …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… to investigate ELSI questions. As the pace of genomic and genetic research increases, the development of research teams … emerging ELSI issues is an important addition to ongoing genetic, genomic and ELSI research efforts. A Center should: … communicated, decision-making and couples communication. Genetic Privacy and Identity in Community Settings Ellen …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… improved medical management strategies for patients with genetic disorders. NHGRI is part of the National Institutes … have tested approaches towards efficient identification of genetic etiologies, and have found often-overlooked …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… to have: Certain screenings (e.g., MRI, blood tests). A genetic test to determine if there are changes that would …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… researchers better understand the meaning of the human genetic instruction book, the project took on a wide range of … 2002; the identification of more than 3 million human genetic variations, called single nucleotide polymorphisms … of known human and mouse genes. … Area Goal Achieved Date Genetic Map 2- to 5-cMresolution map (600 - 1,500 markers) …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… targets  (2015)  TCGA study improves understanding of genetic drivers of thyroid cancer  (2014)  Rare kidney tumor …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… (Professor in Cell and Molecular Biology, Center for Genetic Medicine and Surgery) Northwestern University Andy …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… genomics and improve human health. … $1000 Genome Program Genetic Association Information Network (GAIN) Genomics and …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… program August 4, 2022  Roundtable discussion: "Does genetic and genomic screening keep open the door to …