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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 …
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
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 … A …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… approaches. Dr. Liu discovered that a CBFB-MYH11 fusion gene is the product of chromosome 16 inversion, a common … CBFB-MYH11 for leukemia development, and how this fusion gene works. His group has also made important discoveries … respectively) that form a dimer for DNA binding and gene expression regulation, are frequent targets of such …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… their collaborators have identified mutations in the TAF1 gene. They've also demonstrated that the mutation profiles of … CCEC patients. They also uncovered mutations in the TAF1 gene, a gene that had not been previously implicated in CCEC. … of a transcription factor complex, which regulates the expression of other genes throughout the genome. In addition, …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. …  There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial.  Focus on your thoughts and …