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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. …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a … surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a specific …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-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
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. …
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 … disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They may just be "tagging along" with the actual causal variants. For this reason, researchers often need to take …
Educational Resources
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest.
… Chromosome, Gene, Deoxyribonucleic Acid (DNA), Positional Cloning … physical locations of landmarks or markers (such as genes, variants and other DNA sequences of interest) within a …
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 … among different individuals’ genomes. The individual variants may be short or include thousands of bases. These … stretches of DNA. Such regions may or may not contain a gene(s). …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … studies will be needed to identify disease-associated variants. Another discussion centered on Mendelian diseases, … are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made …