Search Results
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. … polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… It is important to understand the components of gene therapy, how these components differ and other treatment … cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a matched donor. Gene therapy  In gene therapy , your stem cells are changed …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… understanding of the relationship between human genetic variation and population differences in disease distribution, … lend tremendous insight into the current human genetic variation represented by various ethnicities around the … on Africa is essential, it is equally important to explore variation represented by other populations. The DNA helix …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Free CAT scan to detect coronary artery disease.  Finding gene changes that are important to your health and/or the … LG. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing … by analysis of massively parallel sequencing data sets. Gene Med , 2015. [In Press]  Amendola LM, Dorschner MO, …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… The instructions in a gene that tell the cell how to make a specific protein. … Genetic code refers to the instructions contained in a gene that tell a cell how to make a specific protein. Each gene’s code uses the four nucleotide bases of DNA: adenine … The instructions in a gene that tell the cell how to make a specific protein. …
Educational Resources
Recessive Traits and Alleles is a quality found in the relationship between two versions of a gene.
… found in the relationship between two versions of a gene. … Gene, Genotype, Inherited, Mutation, Phenotype, Allele, … an observed trait and the two inherited versions of a gene related to that trait. Individuals inherit two versions of each gene, known as alleles, from each parent. In the case of a …
Educational Resources
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
… that involves the production of one or more copies of a gene or region of a chromosome. … that involves the production of one or more copies of a gene or region of a chromosome. …
Event
NHGRI is hosting a pre-application webinar on September 3, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).
… of Pre-Application Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … 5, 2020  RFA-HG-20-044 : Defining Genomic Influence on Gene Network Regulation (U01 Clinical Trial Not Allowed) … :  Single-cell Profiling of Regulatory Element and Gene Activity in Relationship to Genome Function (UM1 …
Event
NHGRI is hosting a pre-application webinar on September 9, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).
… of Pre-Application Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … 5, 2020  RFA-HG-20-044 : Defining Genomic Influence on Gene Network Regulation (U01 Clinical Trial Not Allowed) … :  Single-cell Profiling of Regulatory Element and Gene Activity in Relationship to Genome Function (UM1 …