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AAT Bioquest

Is whole genome sequencing better than whole exome sequencing?

Posted June 23, 2022


Answer

Whole genome sequencing involves sequencing the entire genome, including the coding and noncoding regions. Whole exome sequencing involves sequencing only the coding regions of the genome. Neither one is better than the other in general. Each technique offers a unique set of advantages, which makes it the preferred option for different purposes. Whole genome sequencing is the preferred technique when researchers want to study the entire genome in order to detect any lethal changes in the genes or to determine the progression of cancer. Researchers use whole exome sequencing to sequence only coding regions, which are more sensitive to the detection of mutations. 

Additional resources

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

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