Search Results
Data Sharing
The NHGRI Data Sharing Governance Committee is responsible for the activities necessary for the Institute to implement and maintain NIH and NHGRI data sharing policies.
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 …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… previous methods such as linkage mapping and candidate gene approaches. The CMGs aim to make major contributions to … ​ … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… with the responsible genes. … Marker, DNA Sequence, Gene, Inheritance … A marker (largely synonymous with the …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
Strategic Plan
View a timeline of the latest news and activities related to NHGRI's 2020 strategic planning process, including upcoming events taking place near you.
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. TAF1 …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… researchers have played key roles in a number of important gene discoveries, including the identification of genes … mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical …