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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
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… disease phenotypes. ​ … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, …
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, …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… (PRS) Methods and Analysis for Populations of Diverse Ancestry — Study Sites University of Southern California** … Schaid Polygenic Risk of Disease in Populations of Diverse Ancestry UNC-Chapel Hill Yun Li*, Alexander Reiner, Nancy Cox … Across the Life-Span in Populations of Diverse Ancestry University of California, Los Angeles Bogdan …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… Communications and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family histories of breast … Dean of Social Science at Columbia University on genes, ancestry and identity; Wylie Burke , Professor of Bioethics …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… not considering the scores in the context of non-genetic risk factors as a part of genetically informed risk … structural ramifications of screening based on race and/or genetic ancestry? Recognizing that genetic variants track imperfectly …
News Release
The TCGA network describes uterine and bile duct cancer.
… characteristics of breast cancer by African and European Ancestry. This paper identifies molecular differences by genetic ancestry, most of which can be captured by known breast …