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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 … 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. …
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 …
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 …
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
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
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 …
Staff
Sangeetha Raghavan is a Senior Licensing and Patenting Manager in NHGRI's Technology Transfer Office.
… in wide ranging areas of biologics, diagnostics, drug delivery, therapeutics, medical devices, plant varieties, … Technology, Licensing, biologics, diagnostics, drug delivery, therapeutics, medical devices, plant varieties, …
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 … cancer (CCEC) tumors has identified mutations in the TAF1 gene. …