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A new approach for detecting low-level mutations in next-generation sequence data
LiandStonekingGenomeBiology2012,13:R34
/2012/13/5/R34
METHOD
OpenAccess
Anewapproachfordetectinglow-level
mutationsinnext-generationsequencedata
MingkunLi*andMarkStoneking
Abstract
Weproposeanewmethodthatincorporatespopulationre-sequencingdata,distributionofreads,andstrandbias
indetectinglow-levelmutations.Themethodcanaccuratelyidentifylow-levelmutationsdowntoalevelof2.3%,
withanaveragecoverageof500×,andwithafalsediscoveryrateoflessthan1%.Inaddition,wealsodiscuss
otherproblemsindetectinglow-levelmutations,includingchimericreadsandsamplecross-contamination,and
providepossiblesolutionstothem.
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