Universität zu Köln

Jobanputra, Vaidehi, Wrzeszczynski, Kazimierz O., Buttner, Reinhard, Caldas, Carlos ORCID: 0000-0003-3547-1489, Cuppen, Edwin, Grimmond, Sean ORCID: 0000-0002-8102-7998, Haferlach, Torsten, Mullighan, Charles ORCID: 0000-0002-1871-1850, Schuh, Anna and Elemento, Olivier (2022). Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology. Semin. Cancer Biol., 84. S. 23 - 32. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1096-3650

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Abstract

Whole-genome sequencing either alone or in combination with whole-transcriptome sequencing has started to be used to analyze clinical tumor samples to improve diagnosis, provide risk stratification, and select patient -specific therapies. Compared with current genomic testing strategies, largely focused on small number of genes tested individually or targeted panels, whole-genome and transcriptome sequencing (WGTS) provides novel opportunities to identify and report a potentially much larger number of actionable alterations with diagnostic, prognostic, and/or predictive impact. Such alterations include point mutations, indels, copy-number aberrations and structural variants, but also germline variants, fusion genes, noncoding alterations and muta-tional signatures. Nevertheless, these comprehensive tests are accompanied by many challenges ranging from the extent and diversity of sequence alterations detected by these methods to the complexity and limited existing standardization in interpreting them. We describe the challenges of WGTS interpretation and the opportunities with comprehensive genomic testing.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Jobanputra, Vaidehi UNSPECIFIED UNSPECIFIED UNSPECIFIED Wrzeszczynski, Kazimierz O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Buttner, Reinhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Caldas, Carlos UNSPECIFIED orcid.org/0000-0003-3547-1489 UNSPECIFIED Cuppen, Edwin UNSPECIFIED UNSPECIFIED UNSPECIFIED Grimmond, Sean UNSPECIFIED orcid.org/0000-0002-8102-7998 UNSPECIFIED Haferlach, Torsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Mullighan, Charles UNSPECIFIED orcid.org/0000-0002-1871-1850 UNSPECIFIED Schuh, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Elemento, Olivier UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-692960
DOI:	10.1016/j.semcancer.2021.07.003
Journal or Publication Title:	Semin. Cancer Biol.
Volume:	84
Page Range:	S. 23 - 32
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 FOR-MOLECULAR-PATHOLOGY; CLONAL HEMATOPOIESIS; MUTATIONAL LANDSCAPE; TUMOR HETEROGENEITY; CANCER; VALIDATION; GUIDELINES; ABERRATIONS; EXPRESSION; STANDARDS Multiple languages Oncology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69296