By a News Reporter-Staff News Editor at Biotech Business Week -- New research on Life Science Research is the subject of a report. According to news reporting out of St. Louis, Missouri, by NewsRx editors, research stated, "Next-generation sequencing (NGS) has emerged as a powerful technique for the detection of genetic variants in the clinical laboratory. NGS can be performed using DNA from FFPE tissue, but it is unknown whether such specimens are truly equivalent to unfixed tissue for NGS applications."
Our news journalists obtained a quote from the research from Washington University, "To address this question, we performed hybridization-capture enrichment and multiplexed Illumina NGS for 27 cancer-related genes using DNA from 16 paired fresh-frozen and routine FFPE Lung adenocarcinoma specimens and conducted extensive comparisons between the sequence data from each sample type. This analysis revealed small but detectable differences between FFPE and frozen samples. Compared with frozen samples, NGS data from FFPE samples had smaller library insert sizes, greater coverage variability, and an increase in C to T transitions that was most pronounced at CpG dinucleotides, suggesting interplay between DNA methylation and formalin-induced changes; however, the error rate, library complexity, enrichment performance, and coverage statistics were not significantly different. Comparison of base calls between paired samples demonstrated concordances of >99.99%, with 96.8% agreement in the single-nucleotide variants detected and >98% accuracy of NGS data when compared with genotypes from an orthogonal single-nucleotide polymorphism array platform."
According to the news editors, the research concluded: "This study demonstrates that routine processing of FFPE samples has a detectable but negligible effect on NGS data and that these samples can be a reliable substrate for clinical NGS testing."
For more information on this research see: Comparison of Clinical Targeted Next-Generation Sequence Data from Formalin-Fixed and Fresh-Frozen Tissue Specimens. Journal of Molecular Diagnostics, 2013;15(5):623-633. Journal of Molecular Diagnostics can be contacted at: Elsevier Science Inc, 360 Park Ave South, New York, NY 10010-1710, USA. (Elsevier - www.elsevier.com; Journal of Molecular Diagnostics - www.elsevier.com/wps/product/cws_home/724907)
Our news journalists report that additional information may be obtained by contacting D.H. Spencer, Washington University, Sch Med, Dept. of Genom & Pathol Serv, St Louis, MO 63110, United States. Additional authors for this research include J.K. Sehn, H.J. Abel, M.A. Watson, J.D. Pfeifer and E.J. Duncavage (see also Life Science Research).
Keywords for this news article include: Missouri, St. Louis, United States, Life Science Research, North and Central America
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