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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
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… few years, it will significantly increase the amount of genomic information parents can learn about their fetus. But … their clinicians when faced with a tremendous range of genomic information," said Benjamin E. Berkman, J.D., M.P.H., … will need additional training on how to present fetal genomic information in a way that meets an individual woman's …
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 …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its … a fundamental challenge in genomics: understanding how genomic variants affect genome function in giving rise to … papers and scientific reviews. He has received numerous awards, including the U.S. Presidential Early Career Award …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… 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 … cell types. While computational studies using comparative genomic approaches have advanced our understanding of the …
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. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
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. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… with NHGRI investigators on a variety of projects, from genomic characterizations of DNAse I hypersensitive sites and … Oncology . In addition, she has authored a chapter on genomic databases for two editions of the textbook … ] Solomon BD, Nguyen A-D, Bear KA, Wolfsberg TG. Clinical Genomic Database. Proc Natl Acad Sci U S A, 110(24):9851-5. …
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): … concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… plasmids. He is particularly interested in identifying genomic features that connect patients to each other or to …