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An integrated clinical and genomic information system for cancer precision medicine

Cited 5 time in Web of Science Cited 6 time in Scopus
Authors
Jang, Yeongjun; Choi, Taekjin; Kim, Jongho; Park, Jisub; Seo, Jihae; Kim, Sangok; Kwon, Yeajee; Lee, Seungjae; Lee, Sanghyuk
Issue Date
2018-04-20
Publisher
BioMed Central
Citation
BMC Medical Genomics, 11(Suppl 2):34
Keywords
Information systemGenomic medicinePersonalized medicinePrecision medicineTargeted therapyOncologyCancer
Abstract
Background
Increasing affordability of next-generation sequencing (NGS) has created an opportunity for realizing genomically-informed personalized cancer therapy as a path to precision oncology. However, the complex nature of genomic information presents a huge challenge for clinicians in interpreting the patient’s genomic alterations and selecting the optimum approved or investigational therapy. An elaborate and practical information system is urgently needed to support clinical decision as well as to test clinical hypotheses quickly.

Results
Here, we present an integrated clinical and genomic information system (CGIS) based on NGS data analyses. Major components include modules for handling clinical data, NGS data processing, variant annotation and prioritization, drug-target-pathway analysis, and population cohort explorer. We built a comprehensive knowledgebase of genes, variants, drugs by collecting annotated information from public and in-house resources. Structured reports for molecular pathology are generated using standardized terminology in order to help clinicians interpret genomic variants and utilize them for targeted cancer therapy. We also implemented many features useful for testing hypotheses to develop prognostic markers from mutation and gene expression data.

Conclusions
Our CGIS software is an attempt to provide useful information for both clinicians and scientists who want to explore genomic information for precision oncology.
ISSN
1755-8794
Language
English
URI
http://hdl.handle.net/10371/142631
DOI
https://doi.org/10.1186/s12920-018-0347-9
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College of Natural Sciences (자연과학대학)Program in Bioinformatics (협동과정-생물정보학전공)Journal Papers (저널논문_협동과정-생물정보학전공)
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