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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 …
Media Advisory
NHGRI will host a two-day symposium addressing historical and present-day constructions of disability and ableism, with a focus on the history and lived experiences of people with disabilities in the context of genomics and genetics.
… For Immediate Release … The National Human Genome Research Institute (NHGRI) of the National Institutes … virtual symposium will be virtual. To register, visit genome.gov/disability-and-genomics . … Please note: Sign …
Media Advisory
On April 25, 2023, NHGRI will host a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
… Release … On National DNA Day, the National Human Genome Research Institute (NHGRI), part of the National … two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the … … Senior Investigator Francis Collins, National Human Genome Research Institute Intramural Research Program …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Buffalo … Biographies … Slides (PDF) … The National Human Genome Research Institute (NHGRI) and The State University of …
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
This symposium highlights other collaborative efforts between NIH and Children's National, and address genomics and care of children with immunologic diseases.
Event
On April 25, 2023, NHGRI hosted a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
… Day event … Resources … Biographies … The National Human Genome Research Institute (NHGRI) hosted a symposium on April … two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the … two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the …
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 …