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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
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
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 …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …
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" …