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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 …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 … as polygenic risk scores, behavior, human identity, gene editing, history of eugenics, artificial intelligence, …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … therapy and the other, AAV-mediated nuclease-free genome editing. In addition, he is a member of NCATS’s Platform …
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 …
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 …
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 in an X-linked …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.