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Exploring whole exomes - Nature
The ability to interrogate all protein-coding regions at high sequencing depth in a cost-efficient way has dramatically accelerated the pace of human disease gene discovery, particularly for rare...
Whole Exome Sequencing > Fact Sheets > Yale Medicine
Whole exome sequencing is a type of genetic sequencing increasingly used to understand what may be causing symptoms or a disease. Genetic testing has already been used for a long time in some health areas, such as cancer diagnosis and prenatal screening.
Exome - Wikipedia
The exome of the human genome consists of roughly 180,000 exons constituting about 1% of the total genome, or about 30 megabases of DNA. Though composing a very small fraction of the genome, mutations in the exome are thought to harbor 85% of mutations that have a large effect on disease.
What is exome sequencing? | Broad Institute
The human genome consists of 3 billion nucleotides or “letters” of DNA. But only a small percentage — 1.5 percent — of those letters are actually translated into proteins, the functional players in the body. The “exome” consists of all the genome’s exons, which are the coding portions of genes.
What are whole exome sequencing and whole genome sequencing? - MedlinePlus
Together, all the exons in a genome are known as the exome, and the method of sequencing them is known as whole exome sequencing. This method allows variations in the protein-coding region of any gene to be identified, rather than in only a select few genes.
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