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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
Educational Resources
Nucleic acids are large biomolecules that play essential roles in all cells and viruses.
… … Nucleotide, Genetic Code, DNA, Deoxyribonucleic Acid, Gene Expression … Nucleic acids are large biomolecules that play … A major function of nucleic acids involves the storage and expression of genomic information. Deoxyribonucleic acid, or …
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 …
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
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 …
Educational Resources
Evolution is the process by which organisms change over time.
… change over time. … Genetic Mutation, Genetic Variation, Gene Expression, Charles Darwin, The Origin Of Species, Genes … …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… genes and other DNA sequences of interest. … Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning … A …
Educational Resources
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address.
… Locus … A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address. … Locus, Allele, DNA Polymorphism, Gene, Chromosome … A locus, as related to genomics, is a physical site or location within a genome (such as a gene or another DNA segment of interest), somewhat like a …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… form of blindness is associated with variation in the gene for complement factor H, which produces a protein … Study, the Women's Health Initiative and the Candidate Gene Association Resource, which pools DNA samples collected … … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene …
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… (CNV) is when the number of copies of a particular gene varies from one individual to the next. … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) … stretches of DNA. Such regions may or may not contain a gene(s). … A copy number variation (CNV) is when the number …