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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
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a … 568961/2017-news-release-nih-and-collaborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/" … 568961/2017-news-release-nih-and-collaborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/">see related …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… A. G., Nickle, D. C., and Mullins, J. I. 2004. Pervasive genomic recombination of HIV-1 in vivo . Genetics 167(4): … Mullins, J. I. 2006. Evolution of intrahost HIV-1 genetic diversity during chronic infection. Evolution 60(6): … concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… and exome sequencing and how to maximize the utility of genomic findings for both patients and practitioners. Her … in these efforts is to investigate the clinical utility of genomic techniques to develop best practices for the return … … Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP). … Julie Sapp, …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
…  Evaluate impact and effectiveness of dissemination of genomic knowledge, with a focus on behavioral conditions. … with practitioners to create an evidence base for genomic applications . The Engagement Methods Unit will … work with autism as an example of a situation where genomic knowledge needs to be disseminated to families and …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… and postdoctoral studies focused on the fine-mapping of genomic deletions in ovarian cancer and in malignant … 2006, Dr. Bell launched a new research program to identify genomic alterations that cause clinically aggressive forms of … Dr. Bell's ongoing research aims to identify additional genomic alterations that drive clinically aggressive …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… the molecular innovations that drove the surge of diversity in early animal evolution. His research group … animal phyla to understand the relationship between genomic and morphological complexity, as well as the … advanced our understanding of the relationship between genomic and morphological complexity, the evolution of …
Clinical Research
A study for patients with unexpected genetic results
… having genetic testing done for some other reason. … The Genomic Services Research Program (GSRP) is a study of people … of uncertain significance   … May 13, 2021: From one genomic diagnosis, researchers discover other treatable … A study for patients with unexpected genetic results … The Genomic Services Research Program (GSRP) … Genomic Services …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… NIH findings may help researchers understand how genomic variation can affect behavioral differences in … owners around the world. The researchers found that the genomic differences among dog breeds are related to the … in the human genome can contribute to behavioral diversity among humans. Further research can help us draw a …
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.
… into question current policies on receiving secondary genomic findings. … A study published today by researchers at … individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare … , examines people's attitudes about receiving secondary genomic findings related to treatable or preventable …