Detection Methods in Precision Medicine
CHAPTER 8: Analytical Challenges of Next-generation Sequencing in Precision Medicine
-
Published:10 Dec 2020
-
Special Collection: 2020 ebook collectionSeries: Detection Science
Matthew R. Liebers, 2020. "Analytical Challenges of Next-generation Sequencing in Precision Medicine", Detection Methods in Precision Medicine, Mengsu (Michael) Yang, Michael Thompson
Download citation file:
The groundbreaking advances in life science technology have required increasingly sophisticated analytical approaches to yield results that are meaningful scientifically and clinically. Many diagnostics inherent to precision medicine are also limited by patient samples with specific and sufficient material. Parsing out true biological signals from background noise is further restricted by the sensitivity and accuracy of technologies and bioinformatic pipelines, as well as by challenges in technical replication and validation. Deducing the clinical significance of identified genetic markers or other biomarkers may require very large datasets, as well as supporting experimental and clinical data. Furthermore, the evaluation of therapeutic response at the populational level necessitates a level of scrutiny where efficacy and safety are analyzed in a highly multifactorial and highly confounding environment so that response can be successfully isolated in pertinent subpopulations.