Universität zu Köln

Meggendorfer, Manja, Jobanputra, Vaidehi, Wrzeszczynski, Kazimierz O., Roepman, Paul, de Bruijn, Ewart, Cuppen, Edwin, Buttner, Reinhard, Caldas, Carlos ORCID: 0000-0003-3547-1489, Grimmond, Sean ORCID: 0000-0002-8102-7998, Mullighan, Charles G., Elemento, Olivier, Rosenquist, Richard ORCID: 0000-0002-0211-8788, Schuh, Anna and Haferlach, Torsten (2022). Analytical demands to use whole-genome sequencing in precision oncology. Semin. Cancer Biol., 84. S. 16 - 23. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1096-3650

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Abstract

Interrogating the tumor genome in its entirety by whole-genome sequencing (WGS) offers an unprecedented insight into the biology and pathogenesis of cancer, with potential impact on diagnostics, prognostication and therapy selection. WGS is able to detect sequence as well as structural variants and thereby combines central domains of cytogenetics and molecular genetics. Given the potential of WGS in directing targeted therapeutics and clinical decision-making, we envision a gradual transition of the method from research to clinical routine. This review is one out of three within this issue aimed at facilitating this effort, by discussing in-depth analytical validation, clinical interpretation and clinical utility of WGS. The review highlights the requirements for implementing, validating and maintaining a clinical WGS pipeline to obtain high-quality patient-specific data in accordance with the local regulatory landscape. Every step of the WGS pipeline, which includes DNA extraction, library preparation, sequencing, bioinformatics analysis, and data storage, is considered with respect to its logistics, necessities, potential pitfalls, and the required quality management. WGS is likely to drive clinical diagnostics and patient care forward, if requirements and challenges of the technique are recognized and met.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Meggendorfer, Manja UNSPECIFIED UNSPECIFIED UNSPECIFIED Jobanputra, Vaidehi UNSPECIFIED UNSPECIFIED UNSPECIFIED Wrzeszczynski, Kazimierz O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Roepman, Paul UNSPECIFIED UNSPECIFIED UNSPECIFIED de Bruijn, Ewart UNSPECIFIED UNSPECIFIED UNSPECIFIED Cuppen, Edwin UNSPECIFIED UNSPECIFIED UNSPECIFIED Buttner, Reinhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Caldas, Carlos UNSPECIFIED orcid.org/0000-0003-3547-1489 UNSPECIFIED Grimmond, Sean UNSPECIFIED orcid.org/0000-0002-8102-7998 UNSPECIFIED Mullighan, Charles G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Elemento, Olivier UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenquist, Richard UNSPECIFIED orcid.org/0000-0002-0211-8788 UNSPECIFIED Schuh, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Haferlach, Torsten UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-692906
DOI:	10.1016/j.semcancer.2021.06.009
Journal or Publication Title:	Semin. Cancer Biol.
Volume:	84
Page Range:	S. 16 - 23
Date:	2022
Publisher:	ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
Place of Publication:	LONDON
ISSN:	1096-3650
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SOMATIC MUTATIONS; CLONAL EVOLUTION; SAMPLES Multiple languages Oncology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69290