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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 Program7
- 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)3
- 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
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
News Release
The finding marks a new effort in conserving an ancient dog breed, with potential to inform human vocalization processes.
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
News Release
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
Event
On November 18, 2021, NHGRI will host an NIH Genomics and Health Disparities Special Interest Group lecture, "NIH Approach to Inclusive Excellence - The COSWD Viewpoint" by Marie A. Bernard, M.D.
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.