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In this chapter we discuss the challenges in cancer biomarkers discovery. Furthermore, we discuss next-generation molecular markers and their applications in diagnostic screening, early diagnosis, risk assessment, prognosis and pharmacogenomics of immune diseases, cardiovascular diseases, metabolomic diseases, infectious diseases, neurological diseases and cancers. Additionally, we give brief accounts of therapeutic biomarkers for these selected diseases. Finally, we conclude the chapter with a future perspective on molecular biomarkers.

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