期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 18, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/ijms18020308
关键词
next-generation sequencing; whole-exome-sequencing; whole-genome-sequencing; gene-panel; inherited cancer syndrome; cancer somatic mutation; diagnostics; genetic modifiers; theranostics
资金
- Dutch Cancer Society KWF Kankerbestrijding [UM-2013-5782]
- Health Foundation Limburg
Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy. Conclusive remarks, clinical limitations, implications and ethical considerations that relate to the different applications are provided.
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