EXOME Meaning and
Definition
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Exome refers to the portion of the genome that represents all the exons within an organism's DNA. Exons are the sections of DNA that contain the coding information necessary for the synthesis of proteins. They are interspersed between introns, which do not code for proteins and are spliced out during the process of gene expression. The exome represents approximately 1-2% of the entire genome and is considered highly significant because it contains the majority of disease-causing variants.
The exome can be sequenced using a technique called exome sequencing, which involves selectively capturing and sequencing only the exonic regions of an individual's genome. This targeted approach allows for the identification of genetic variations, or mutations, that may be responsible for various genetic disorders, including rare diseases and even certain types of cancers.
The study of the exome has become a key focus of research in the field of genomics due to its potential for uncovering the genetic basis of diseases. By analyzing the exome, scientists can identify variations and mutations with clinical significance, aiding in both diagnosis and treatment. This approach enables a more efficient and cost-effective method of genetic analysis compared to whole-genome sequencing, as it concentrates on the DNA regions most likely to contain disease-causing mutations. Furthermore, exome sequencing has led to important discoveries in the understanding of human genetics and has provided valuable insights into the role of specific genes in disease development.
Common Misspellings for EXOME
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Etymology of EXOME
The word "exome" is a portmanteau of two terms: "exon" and "genome".
The term "exon" refers to the coding regions of a gene. Genes are made up of both exons (protein-coding regions) and introns (non-coding regions). Exons are responsible for the production of proteins, while introns are usually transcribed into RNA but are ultimately removed during the process of protein synthesis. Thus, exons are considered the functional parts of a gene.
On the other hand, "genome" refers to the complete set of genetic material (DNA) present in an organism. It encompasses all the genes, non-coding regions, and other regulatory sequences that make up an organism's genetic information.
When these two terms are combined, "exome" refers to the portion of the genome that consists of exons.
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