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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… we now have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be … … The Cancer Genome Atlas, TCGA, adenocarcinoma and genetic mutations, Harold Varmus M.D., DNA copy number …
Research Funding
Policies and guidance regarding research funding from the NHGRI and the National Institutes of Health.
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine. … electronic medical record (EMR), high-throughput genetic research, genomic medicine … Dr. Robb Rowley is an …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… in Nature and in several other publications - examine the genetic and biochemical programs involved in regulating mouse … Ph.D., John Stamatoyannopoulos, M.D., mouse models for genetic research … Researchers have found powerful clues to …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… of Confidentiality. ​ … 21st Century Cures Act, genetic privacy, genomic privacy, researchers and privacy, …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… Fund project, GTEx (2010 - 2019), which investigated how genetic variation impacts gene expression in multiple tissues … (~12.5-18 years). This resource of gene-expression levels, genetic data, and samples will be broadly available for …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… about the prospects, fears, controversy and boundaries of genetic engineering. The subject of my term paper together … group developed new technologies and techniques for human genetic studies. We worked on developing methods for mapping … study science, earning a bachelor's degree in zoology and statistics from the University of Georgia and a doctorate …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Brigham and Women's Hospital Predicting the impact of genetic variants, genes and pathways on human disease … modeling of the functional and phenotypic impacts of genetic variants HG012064 Anshul Kundaje Stanford University … context-specific molecular and phenotypic effects of genetic variation through the lens of the cis-regulatory code …
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… in 2022. His interests involve the relationship between genetic variation and phenotypic variation at various scales … individuals and populations. He believes that nothing in genetic epidemiology makes sense except in the light of …