Standardization efforts enabling next-generation sequencing and microarray based biomarkers for precision medicine

摘要

Microarrays and next-generation sequencing technologies have been increasingly employed in biomedical research. However, before they can be reliably used as clinical biomarker tests, standardization and quality control measures need to be developed to ensure their analytical validity. This review summarizes community-wide efforts such as the MicroArray and Sequencing Quality Control (MAQC/SEQC) project which have identified factors influencing the performance of these technologies. Consequently, consensus-based standards and well-documented best practices have been developed to improve the quality of scientific research, and reference materials and reference datasets have been made available for evaluating the technical proficiency in future studies. These efforts have built the foundation on which the translational application of genomics based technologies can help realize precision medicine.