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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.
… Genetic Code … 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 …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… genome-editing research. … In light of recent advances in gene-editing research and technologies, the National … decision making for the responsible use of human gene-editing research. This initiative examined the clinical, ethical, legal and social implications of human gene editing. Their efforts included an international summit …
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 …
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 …
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. … Mutation, Chromosome, … that involves the production of one or more copies of a gene or region of a chromosome. … Educational Resources …
Educational Resources
A polygenic trait is one whose phenotype is influenced by more than one gene.
… is one whose phenotype is influenced by more than one gene. … Gene, Genotype, Inherited, Mendelian Inheritance, Phenotype, … is one whose phenotype is influenced by more than one gene. … Educational Resources …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… sequences and determinants of chromosome structure and function, such as origins of replication. To date, much … to a stratified random-sampling strategy based on gene density and level of non-exonic conservation. The … and bottom 50 percent - along each of two axes: 1) gene density and 2) level of non-exonic conservation with …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… NCBI’s publicly available ClinVar database and sharing gene-level interpretations through GenCC. This group works … data sharing. Additionally, this group is focused on gene and variant curation through expert panels within the … the ClinGen actionability curation and gene/variant curation per the ACMG/AMP guidelines, including …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… form of muscular dystrophy caused by a mutation in the DMD gene. … DMD is a rapidly progressive form of muscular … in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families … Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. The …