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Whole exome sequencing
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'''Whole exome sequencing''' (WES) is a form of [[genetic testing]] that maps all of a person's [[exons]], pieces of [[DNA]] that provide instructions for making [[proteins]].<ref name=":0">{{Cite web|url=https://ghr.nlm.nih.gov/primer/testing/sequencing | title = What are whole exome sequencing and whole genome sequencing? | last = | first = | authorlink = | date = |website=Genetics Home Reference|publisher=U.S. National Library of Medicine|language=en|archive-url=|archive-date=|url-status=|access-date=2019-01-13}}</ref> The human [[exome]] (complete set of exons) is thought to make up one percent of the human [[genome]].<ref name=":0" /> [[Whole genome sequencing]] (WGS), which maps the full [[genome]], is more costly and most [[mutations]] known to cause diseases are found in the exome, so mapping the exome has provided a comparatively affordable yet effective improvement on previous testing that only [[Select gene sequencing|mapped a select few genes]].<ref name=":0" /> Recently, though, costs for WGS have decreased, becoming closer to the price of WES; in 2017, researcher [[Liz Worthey]]'s lab charged $6,500 for WGS, versus $5,000 to $5,500 for WES.<ref>{{Cite web|url=https://www.technologyreview.com/s/604238/when-even-genome-sequencing-doesnt-give-a-diagnosis/ | title = Patients face a frustrating diagnostic odyssey when genome sequencing doesnโt provide an answer | last=Mullin | first=Emily|website=MIT Technology Review|language=en|access-date=2019-03-29}}</ref> Additionally, WGS may be preferable as some genetic disorders are caused by mutations outside the exome, meaning WES would not detect them. At the same time, the medical and research value of the large quantities of information generated by WGS remains uncertain, given many genetic variations do not cause illness.<ref name=":0" /> ==See also== * [[Genetics of chronic fatigue syndrome]] * [[Coverage (genetics)]] * [[Fibromyalgia#Blood test|Fibromyalgia (Blood Test - EpicGenetics)]] ==References== {{reflist}} {{stub}} [[Category:Genetics]]
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