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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
A genotype is an individual's collection of genes.
… Genotype … A genotype is an individual's collection of genes. … Genotype, Genes, DNA Sequence, Phenotype … A genotype is a scoring of the type of variant present at a given location (i.e., a … BB, Bb, bb could be used to represent a given variant in a gene. Genotypes can also be represented by the actual DNA …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to bring … past few months, NHGRI staff will continue pursuing our genomics-driven mission, whether working remotely from home … one that covered about 99 percent of the genome's gene-containing regions and had an accuracy of 99.99 percent. …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… Sheena Faherty Ph.D. … In the basement of a three-story brick building on the main campus of the … But this wee creature is making big waves in the sea of genomics research. The zebrafish is a powerhouse tool that … of NHGRI's Zebrafish Core. "They can request any single gene or multiple genes in a pathway they want knocked out," …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… The first such AGBT meeting was held in 2000, when most of the attendees were – in one way or another – busily … is gratifying to reflect on the amazing metamorphosis of genomics over the last two decades, especially with respect … link higher maternal blood pressure to placental gene changes Genetic profile may predict chance of type 2 …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to what we know about your … Free CAT scan to detect coronary artery disease.  Finding gene changes that are important to your health and/or the … Institutes of Health researchers has turned traditional genomics research on its head. Trans-NIH Study Explores …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
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… decades, but the conversation about the science and ethics of genome editing has grown louder due to faster, cheaper, … will aid the development of new treatments, including gene therapy . … Scientists have had the knowledge and … creating targeted mutations to the genome. 5  Large-scale genomics projects that once took many years and tens of …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… disorder. The results help to determine a person’s risk of developing the specific disorder being tested for. These … Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. … … ancestry and the health of you and your family. … One way genomics research can benefit you is through the emerging …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A … trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more …
News Release
American Indians and Alaska Natives IRB training programs at NIH ensure the welfare of people participating in federally regulated research.
… Mjoseth … Aha moments were among the unexpected outcomes of the Institutional Review Board (IRB) training program for … after Dr. Hull participated in the annual Short Course in Genomics provided by NHGRI's Education and Community … and high school science teachers learn ways to incorporate genomics content into their classrooms. "We had already …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or condition), when discussed in the context of genetics, reflects a disorder that results from the …