2 research outputs found
Targeted next generation sequencing as a reliable diagnostic assay for the detection of somatic mutations in tumours using minimal DNA amounts from formalin fixed paraffin embedded material
- Author
- Barendregt-Smouter F.A.S. (Françoise A.S.)
- Cuppen E. (Edwin)
- Gadellaa-Van Hooijdonk C.G.M. (C. G M)
- Hinrichs J.W.J. (John W.J.)
- Jonge M.J.A. (Maja) de
- Koudijs M.J. (Marco J.)
- Langenberg M.H. (Marlies)
- Leng W.W.J. (Wendy) de
- Lieshout S. (Stef) van
- Loberg R.D. (Robert D.)
- Lolkema M.P. (Martijn)
- Nijman I. (Ies)
- Sleijfer S. (Stefan)
- Steeghs N. (Neeltje)
- Voest E.E. (Emile)
- Weger R.A. (Roel) de
- Willems S.M. (Stefan Martin)
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 01/02/2016
- Field of study
Background Targeted Next Generation Sequencing (NGS) offers a way to implement testing of multiple genetic aberrations in diagnostic pathology practice, which is necessary for personalized cancer treatment. However, no standards regarding input material have been defined. This study therefore aimed to determine the effect of the type of input material (e.g. formalin fixed paraffin embedded (FFPE) versus fresh frozen (FF) tissue) on NGS derived results. Moreover, this study aimed to explore a standardized analysis pipeline to support consistent clinical decision-making. Method We used the Ion Torrent PGM sequencing platform in combination with the Ion AmpliSeq Cancer Hotspot Panel v2 to sequence frequently mutated regions in 50 cancer related genes, and validated the NGS detected variants in 250 FFPE samples using standard diagnostic assays. Next, 386 tumour samples were sequenced to explore the effect of input material on variant detection variables. For variant calling, Ion Torrent analysis software was supplemented with additional variant annotation and filtering. Results Both FFPE and FF tissue could be sequenced reliably with a sensitivity of 99.1%. Validation showed a 98.5%concordance between NGS and conventional sequencing techniques, where NGS provided both the advantage of low input DNA concentration and the detectio
UEG Week 2019 Poster Presentations
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- Aabakken L.
- Abdel Salam A.G.
- Abdel-Aziz H.
- Aboyans V.
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- American College of Gastroenterology Chronic Constipation Task Force An evidence-based approach to the management of chronic constipation in north america
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- Ukkola A.
- Ulitsky A.
- Ungprasert P.
- Ushiku T.
- Valle
- Van Assche G.
- Van de Bruaene C.
- Van Deursen A.J.
- Van Heijningen E.M.
- Vande Casteele N.
- Vander Cruyssen B.
- Varkey J.
- Velupillai S.
- Verstockt B.
- Vesterhus M.
- Vesterhus M.
- Vicari J. J.
- Vicario M.
- Vieth M.
- Vinson Radke
- Vitale A.
- Vogelstein Kinzler
- Voiosu A.M.
- Von Arnim U.
- Voudoukis E.
- Vries E.M.
- Vries E.M.G.
- Wagner H.J.
- Wagner M.
- Wagner M.
- Walker G.J.
- Walters S.J.
- Waluga
- Wang D.
- Wang L.R.
- Wani S.
- Wani S.
- Wani S.
- Wani S.
- Warda A.K.
- Washington K.
- Washio E.
- Watanabe Toshiaki
- Wei Y.
- Weihmiller S.N.
- Weilert
- Weisenberger D.J.
- Weng M.T.
- Werner Y.B.
- Westendorf A.M.
- Westerdahl J.
- Wilder-Smith C.
- Wilder-Smith C.
- Wilder-Smith C.H.
- Wildt S.
- Wiles S.
- Williams H.R.
- Williams S.M.
- Williet N.
- Williet N.
- Wilson A.
- Winawer S.J.
- Wirtz S.
- Wirtz S.
- Wolf
- Wolfsen H.C.
- Wolthuis A.M.
- Wu J.
- Wu Na
- Wu Q.N.
- Wu W.
- Xia Xian Feng
- Xiao
- Xie Q.K.
- Xue Q.L.
- Y.
- Y.
- Y.
- Yada T.
- Yamaki S.
- Yamamori S.
- Yamashita K.
- Yau A.H.
- Yokoe M.
- Yokota K.
- Yokoyama A.
- Yoneno K.
- Yoo S. E.
- Yoshida N.
- Yoshida N.
- Yoshimura D.
- Yushkevich P.A.
- Yusta B.
- Yzet C
- Zakalashvili M.
- Zamora C.
- Zang D.
- Zauber A.G.
- Zavaglia C.
- Zeisel S.H.
- Zeng J.
- Zerbib F.
- Zhang Mengwen
- Zhao X.L.
- Zhao Y.
- Zhao Z.
- Zhao Z.
- Zhong J.H.
- Zhong Qian
- Zhou J.J.
- Zhou Y.
- Zhou# Fan
- Zhu J.
- Zhu Y.
- Zhuang Y.
- Zigmond A.S.
- Öztürk Z.A.
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study