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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human … … NHGRI branch studying how genetic changes affect the structure and function of gene products leading to human … Research Branch studies how genetic changes affect the structure and function of gene products leading to human …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… an upcoming lecture series sponsored by the National Human Genome Research Institute (NHGRI) in collaboration with …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary … by NHGRI to Intramural Investigators employing exome/genome sequencing. ​ … DNA Sequencing, Exam Sequencing, …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… John Ohab … The National Human Genome Research Institute (NHGRI) today launched a new round … 82nd meeting of the National Advisory Council for Human Genome Research. The process will culminate in the … on establishing a more complete understanding of the structure of the human genome. NHGRI's 2003 strategic plan …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… Office of Intramural Research (OIR), the National Human Genome Research Institute (NHGRI), the Deputy Director of …
News Release
Experts from The NHGRI Dog Genome Project turned to Reddit to answer questions as part of an "Ask Me Anything".
… Ph.D. … On November 2, 2017, experts from The NHGRI Dog Genome Project turned to Reddit - a social news website and … of an "Ask Me Anything" (AMA). … The goal of The NHGRI Dog Genome Project is to sequence the genomes of 10,000 dogs in … disease. On November 2, 2017, experts from The NHGRI Dog Genome Project turned to Reddit - a social news website and …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this technique will be useful for accurately reading … researchers used optical mapping to observe the structure of long, single strands of DNA, and the "Hi-C" …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… September 2013. The GDS policy can be traced to the Human Genome Project, completed in 2003, which required rapid and … release during its mapping and sequencing of the human genome. The GDS policy is an extension of and replaces the … NIH Genomic Data Sharing Policy.  The NIH GDS governance structure will be responsible for oversight of the GDS …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… in genetics and genomics, created by the National Human Genome Research Institute's (NHGRI) Genomic Healthcare …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… , is the first to use both dense genotyping and whole-genome sequence data to explore the genomic-variation … ethno-linguistic groups. A genotype is a subset of a whole-genome sequence, which is the complete read-out of an … a subset of African ancestral genomic variation. The structure of subsequent non-African populations reflected …