TY  - JOUR
AU  - Jäger, Natalie
TI  - Bioinformatics workflows for clinical applications in precision oncology.
JO  - Seminars in cancer biology
VL  - 84
SN  - 1044-579X
CY  - London
PB  - Academic Press
M1  - DKFZ-2021-00167
SP  - 103-112
PY  - 2022
N1  - #LA:B062# / 2022 Sep;84:103-112 
AB  - 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.
KW  - Bioinformatics (Other)
KW  - Genomics (Other)
KW  - Precision Oncology (Other)
KW  - clinical decision support (Other)
KW  - somatic variants (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33476720
DO  - DOI:10.1016/j.semcancer.2020.12.020
UR  - https://inrepo02.dkfz.de/record/167176
ER  -