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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 … in a genome. Markers can reflect random sequences, genomic variants or genes. Markers are used as signposts (or …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… location of genetic markers (reflecting sites of genomic variants) on a chromosome. A genetic map is based on the …
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 …
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.
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 …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… into two classes: those that are associated with a single gene and those that are influenced by multiple genes and … each of us unique. These differences, called genomic variants, occur at specific locations within the DNA. DNA is … inherited diseases can be traced to variants in a single gene. Cystic fibrosis, a progressive genetic disease that …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… areas of the genome related to brain development harbor variants that may account for behavioral differences among … areas of the genome related to brain development harbor variants that may account for behavioral differences among … areas of the genome related to brain development harbor variants that may account for behavioral differences among …
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 …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.