Next-generation Sequencing (NGS) is a high-throughput technology that determines the sequences of millions to billions of DNA fragments in a cost-effective manner. NGS has not only shown tremendous potential in early cancer biomarker detection but also in supporting drug discovery efforts and guiding therapies. The applications for NGS have grown rapidly and their evolution has enabled the development of diagnostic and prognostic biomarkers for a wide range of disease areas.
New sampling methods have further advanced interest in sequencing assays. Liquid biopsy is a catch phrase for the collection and analysis of patient biofluid samples such as saliva, plasma, serum. A wide variety of assays have been developed to measure the levels of and profile macromolecules in liquid biopsy samples. One such technology is NGS analysis of circulating nucleic acids, which enables the profiling of circulating RNAs and detection of tumor DNA bearing oncogenic mutations. Standardized and validated NGS assays for circulating RNA and DNA can be utilized for critical applications in drug discovery and medicine such as patient stratification, disease prognosis, monitoring drug efficacy, and even early detection of serious disease.
More recently, NGS has been explored in the metagenomics space for infectious disease surveillance. Researchers have created custom metagenomic sequencing workflows to build comprehensive anal-yses of clinical samples. Cell-free samples have been shown to deliver higher sensitivity than tissue samples, even in studies of microbial populations. NGS technologies, coupled with minimally invasive sampling methods and ultrasensitive detection methods, have also helped in identifying causes of antibiotic resistance and infectious disease outbreaks.
n this eBook, we navigate the landscape of biomarker discovery through genomic profiling, exploring technologies, methods, and applications. We hope this collection of articles creates an appreciation for the wide scope of using sequencing assays for biomarker discovery, drug development, and beyond.