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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.
… epigenomic compounds attach to DNA and modify its function, they are said to have "marked" the genome. These … DNA and DNA-associated proteins in the cell, which alter gene expression, and are heritable (via meiosis and mitosis). … The human genome contains two copies of every gene-one copy inherited from the mother and one from the …
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… An exon is the portion of a gene that codes for amino acids. … An exon is the portion of a gene that codes for amino acids. …
Educational Resources
Deoxyribonucleic acid (abbreviated DNA) is the molecule that carries genetic information for the development and functioning of an organism.
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… used to locate the position of a disease-associated gene along the chromosome. … Candidate, Gene, Chromosome, Contig, Deoxyribonucleic Acid (DNA), Gene, Linkage … used to locate the position of a disease-associated gene on a chromosome. Such a strategy can succeed even when …
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.
Educational Resources
An allele is one of two or more versions of a gene.
… An allele is one of two or more versions of a gene. … Allele, Gene, Homozygous, Autosomal, Mutation, Inherit, Heterozygous, … An allele is one of two or more versions of a gene. …
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 … iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet , 96(6):913-25. 2015. [ …
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 …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 11:05 - 11:25 a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current … of the regulatory consequences of variants, and modeling gene regulation Co-Chairs: Trey Ideker Christina Leslie 12:30 … of Genome Variation, Including Beyond Single Variant/Gene Panel: Nadav Ahituv Dana Crawford Neville Sanjana …
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. …