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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes can cause … choose to participate include: Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… beyond the academic medical center and explore the use of genomic medicine in community-based clinics and primary care … Two grants focus on the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug responses. A third grant examines the role of genomic information in diagnosing and treating inherited …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… form should reflect the research uses for which samples, genomic data, and health information might be shared. … to obtain consent for future uses and broad sharing of genomic and phenotypic data. For more information on genomic … data use is consistent with those choices. For genomic studies involving the use of previously collected samples, …
Careers and Training
The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.
… of genomics, race and human genetic variation. … The unit studies sickle cell disease as a case study of a genetic … SBRB is to investigate approaches to translating new genomic knowledge and precision medicine into clinical …
Educational Resources
NHGRI educates students, teachers and the public about genomics through outreach events and hands-on activities.
… and hands-on activities. ​ … Genomics Education, Genomics Literacy, Genomics 101, Genetics 101, Teaching Genetics, …
Research Funding
The Division of Genomics and Society focuses on the societal issues that need to be studied and addressed as genomics advances.
… societal issues that need to be studied and addressed as genomic science and medicine move forward. The division helps … to ensure that the research findings are incorporated into genomic research initiatives and other NIH and NHGRI …
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): … of gene × gene interactions in genome-wide association studies of human population data. Hum. Hered. 63(2): 67–84. … concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables … our ability to decipher the information it contains, so genomic data science will be a vibrant field of research for … must be educated about the implications of their studies and work closely with ethics researchers. … How do …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… Institute of Mental Health, recently published a set of studies describing how DNA variation can alter gene … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various …