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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.
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 …
Event
The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.
… at the National Institutes of Health (National Human Genome Research Institute, National Heart, Lung and Blood …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium …
Event
As part of the tenth anniversary of the National Human Genome Research Institute’s (NHGRI) History of Genomics Program, members from The Amaral Lab from Northwestern University will present a virtual lecture on how they have used the program’s archive to better understand how a major funding institute like NHGRI has helped shape genomics.
… … Slides … Thanks to the meticulous nature of Human Genome Project architects, the National Human Genome Research Institute (NHGRI) has a rich archive of … … As part of the tenth anniversary of the National Human Genome Research Institute’s (NHGRI) History of Genomics …
Event
Lectures series that increases understanding of genomics in the scholarly community and presents contemporary research of immediate interest to NHGRI staff.
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
… DNA Day, which celebrates the completion of the Human Genome Project and the anniversary of the discovery of DNA's iconic structure, the double helix.  As one of the longest-serving …  … Related Resources … Each year the National Human Genome Research Institute (NHGRI) honors the life and legacy …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… effective therapies. For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing being over a million-fold less expensive … —Eric Green, M.D., Ph.D., Director of the National Human Genome Research Institute  "We have made some exciting …