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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
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Base Pair, … polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA. … polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Educational Resources …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Findings, Genetic Variant, Gene Variant, Gene Variation … This team-based clinical service is provided by …
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 … Genetic Studies of Lysosomal Storage Disorders Genetic Variation Physicians' Understanding of Human Genetic Variation Growth Disorder Study of Proteus Syndrome and …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) … initiatives, including the Centers of Excellence in Genomic Science, genome-sequencing centers, and model … potentially increasing the scientific impact of individual studies. A new Social Determinants of Health (SDOH) …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic … Green, M.D., Ph.D. "These results give us important new genomic insights into the development and behavior of an … to secondhand smoke. In addition to the two lung cancer studies, the TCGA Research Network has generated data and …
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 …
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, …
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 …
News Release
NHGRI hosts a Reddit "Ask Me Anything" about using virtual reality to study a host of questions about the human genome.
… three decades, NHGRI has been focused on understanding how genomic variation contributes to health and disease in all … diverse and underrepresented populations in genomics-based studies, a recent analysis found that individuals of European …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread … National Institutes of Health, determined that specific genomic variants that cause a disease called familial … ways. For example, they can influence some of the genomic variation that accumulates in human populations over time. …