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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The … such as cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating tremendous new opportunities …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… complications. However, such special foods may cause harm in some patients when their use is not carefully monitored … on more than 10 years of observational studies with large patient groups involving two inborn errors of metabolism. The … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… Genomic medicine is an emerging medical discipline that … use. Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed … and designing and testing the implementation of genome sequencing as part of an individual's clinical care. Within …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The … were difficult to “read out” completely using the DNA-sequencing methods available at that time. In addition, the … a single actual human or a representation of human genomic variation. A reference sequence provides researchers …
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo.
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … … Preguntas Frecuentes … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… sequence of the roughly 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… The ACMG/NIH Genomic Program Management Fellowship has been a deeply … collaboration and leadership. An immersive experience in various settings, it allows for a deep dive into project, … the fellowship committee. Throughout these rotations, a patient-care experience equivalent to 0.5 day per week will …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects … (CCGO), which is encouraging NIH institutes to jumpstart genomic medicine by increasing the use of genomic data in clinical research. CCGO is co-sponsored by the National …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in biomedical research and health care. …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will … secondary variants. Any secondary variants found in the research data will be clinically confirmed. The SGFS … NHGRI to Intramural Investigators employing exome/genome sequencing. … DNA Sequencing, Exam Sequencing, Genome …