Search Results
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 …
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.
Leadership
The Office of the Director oversees general operations; administration; communications; and genomic data science activities for the National Human Genome Research Institute.
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 … stretches of DNA. Such regions may or may not contain a gene(s). … (CNV) is when the number of copies of a particular gene varies from one individual to the next. …
For Teachers
Tools and resources for teaching the concepts of transcription and translation, two key steps in gene expression
… of transcription and translation, two key steps in gene expression . … Transcription is the process of making an RNA copy of a gene sequence. This copy, called a messenger RNA (mRNA) … the relationship between the sequence of base pairs in a gene and the corresponding amino acid sequence that it …
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. … 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 … instructions) on a blood sample for changes in the DMD gene can help establish the diagnosis of Duchenne muscular …
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.
… Marker, DNA Sequence, Gene, Inheritance …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… loop. These neighborhoods bring distant genes and specific gene control switches into close proximity. Genetic … merge in brain tumor cells. Researchers found that one gene came under the control of a gene control switch from a different genetic neighborhood, …