Glossary Term
Epigenome
The complete set of epigenetic modifications on the genome of a cell.
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Glossary Term
The complete set of epigenetic modifications on the genome of a cell.
Glossary Term
A procedure that can determine the DNA sequence for nearly the entire genome of an individual.
Glossary Term
The complete genomic content of an organism, and possibly the full DNA sequence of that organism. It is contained in a set of chromosomes in eukaryotes, a single chromosome in bacteria, or a DNA or RNA molecule in viruses.
Glossary Term
A chromosome not involved in sex determination. The diploid human genome consists of a total of 46 chromosomes which includes 22 pairs of autosomes.
Glossary Term
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
Glossary Term
Nucleotide Excision Repair (NER) mends DNA regions that contain chemical adducts, such as UV-induced thymine dimers or carcinogenic adducts, which distort the DNA helix and interfere with replication and transcription. NER is targeted to actively transcribed regions of the genome. During NER in eukaryotes, shape irregularities are detected by protein complexes that slide along the DNA molecule and induce cuts on each side of a lesion several nucleotides away. Removal of the damaged 25-30 nucleotide fragment is followed by repair synthesis and ligation.
Glossary Term
Refers to the total protein-encoding capability of an organism's genome. It is also used to refer to the actual total expressed protein complement of an organism or to the identifiable proteins of a single tissue or cell type or subcellular compartment.
Glossary Term
Nonfunctional DNA sequences that are very similar to the sequences of known genes. Many seem to have arisen as functional gene duplications that subsequently underwent mutation and loss of function. Others are structurally similar to mRNA and seem to have arisen by a reverse transcription event followed by integration into the genome. Some pseudogenes are transcribed and may play a role in regulation of its homologous gene.
Glossary Term
Area of repetitive DNA within the genome consisting of multiple, end-to-end copies of a short DNA sequence usually comprised of di-, tri-, or tetranucleotide repeat units.
Glossary Term
A variation of a single nucleotide at a specific location of the genome due to base substitution, present at an appreciable frequency between individuals of a single interbreeding population.
Glossary Term
A variation of a single nucleotide at a specific location of the genome due to base substitution, which is found at any frequency in the population.
Glossary Term
The complete set of RNA transcripts that are produced by the genome, under specific circumstances or in a specific cell.