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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
On its 15th anniversary, National DNA Day and NHGRI shared its genomics expertise to explain the importance of genomics in our everyday lives.
… cell type, this time in airways. It happens to express the gene for a well-known genetic disease, which we thought all …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… DNA and DNA-associated proteins in the cell, which alter gene expression, and are heritable (via meiosis and mitosis). The … … The human genome contains two copies of every gene-one copy inherited from the mother and one from the …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. … … and dogs have 78 chromosomes. Human Chromosomes  … A gene is a segment of DNA that provides the cell with … other human. Still, we are different. On average, a human gene will have 1-3 letters that differ from person to person. …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… the test predicts the presence or absence of a particular gene or genetic change. Can the test consistently and …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… , people can respond differently to a medication. A gene that is known to contain variants in some people that … substances, like medications.  For example, the CYP2D6 gene encodes a protein that is involved in the metabolism of … People with certain genomic variants in the CYP2D6 gene can metabolize paroxetine too quickly or too slowly. The …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… bioinformatics approaches, they selected the spike protein gene as their vaccine candidate. The spike protein is … versions of the vaccine. …  …  The target spike protein gene is then synthetically manufactured and inserted into in … easy to replicate (copy) and reliably contain the target gene sequence. Once a sequence is selected, a new plasmid can …
Fact Sheets
​Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN​. ​
… el Recurso de asociación de genes "candidatos" ( Candidate Gene Association Resource ), que agrupa muestras de ADN …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente. ​
… secuencia abajo (en dirección 3?), de la ubicación del gene en el cromosoma. La propia maquinaria nuclear de la …
Outreach
Five pieces from the Genome: Unlocking Life’s Code exhibition are now on display at the National Institutes of Health (NIH) campus in Bethesda, MD.
News Release
Researchers at the National Institutes of Health (NIH) question advertisements by direct-to-consumer genetic ancestry kits that claim to know what it really means to be American Indian.