Journal Article (Review Article)

DKFZ-2021-00167

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Bioinformatics workflows for clinical applications in precision oncology.

Jäger, N. (Last author)DKFZ*

2022
Academic Press London

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Please use a persistent id in citations: doi:10.1016/j.semcancer.2020.12.020

Abstract: High-throughput molecular profiling of tumors is a fundamental aspect of precision oncology, enabling the identification of genomic alterations that can be targeted therapeutically. In this context, a patient is matched to a specific drug or therapy based on the tumor's underlying genetic driver events rather than the histologic classification. This approach requires extensive bioinformatics methodology and workflows, including raw sequencing data processing and quality control, variant calling and annotation, integration of different molecular data types, visualization and finally reporting the data to physicians, cancer researchers and pharmacologists in a format that is readily interpretable for clinical decision making. This review comprises a broad overview of these bioinformatics aspects and discusses the multiple analytical, technical and interpretational challenges that remain to efficiently translate molecular findings into personalized treatment recommendations.

Keyword(s): Bioinformatics ; Genomics ; Precision Oncology ; clinical decision support ; somatic variants

Note: #LA:B062# / 2022 Sep;84:103-112

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2021

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Database coverage:
; BIOSIS Previews ; BIOSIS Reviews Reports And Meetings ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 15 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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