Article
Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing.
BMC medical genomics - 13 May 2014
Wong Stephen Q, Li Jason, Tan Angela Y-C, Vedururu Ravikiran, Pang Jia-Min B, Do Hongdo, Ellul Jason, Doig Ken, Bell Anthony, MacArthur Grant A, Fox Stephen B, Thomas David M, Fellowes Andrew, Parisot John P, Dobrovic Alexander
Abstract excerpt
BACKGROUND: Clinical specimens undergoing diagnostic molecular pathology testing are fixed in formalin due to the necessity for detailed morphological assessment. However, formalin fixation can cause major issues with molecular testing, as it causes DNA damage such as fragmentation and non-reproducible sequencing artefacts after PCR amplification. In the context of massively parallel sequencing (MPS),...
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