Standardization efforts enabling next-generation sequencing and microarray based biomarkers for precision medicine.
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.
Center for Pharmacogenomics & Department of Clinical Pharmacy, School of Pharmacy, Fudan University, Shanghai, China.
Yuanting
Y
Zheng
Center for Pharmacogenomics & Department of Clinical Pharmacy, School of Pharmacy, Fudan University, Shanghai, China.
Tao
T
Qing
Center for Pharmacogenomics & Department of Clinical Pharmacy, School of Pharmacy, Fudan University, Shanghai, China.
Yunjie
Y
Song
Center for Pharmacogenomics & Department of Clinical Pharmacy, School of Pharmacy, Fudan University, Shanghai, China.
Jinhang
J
Zhu
Collaborative Innovation Center for Genetics & Development, State Key Laboratory of Genetic Engineering & MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Ying
Y
Yu
Breast Medical Oncology, Yale Cancer Center, Yale School of Medicine, New Haven, CT, USA.
Weiwei
W
Shi
Breast Medical Oncology, Yale Cancer Center, Yale School of Medicine, New Haven, CT, USA.
Lajos
L
Pusztai
Center for Pharmacogenomics & Department of Clinical Pharmacy, School of Pharmacy, Fudan University, Shanghai, China.|Collaborative Innovation Center for Genetics & Development, State Key Laboratory of Genetic Engineering & MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Leming
L
Shi
D015415:Biomarkers / Q000378:metabolism*; D059014:High-Throughput Nucleotide Sequencing / Q000592:standards*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000592:standards*; D057285:Precision Medicine / Q000379:methods*; D012015:Reference Standards; D057170:Translational Research, Biomedical
D015415:Biomarkers
MAQC; SEQC; biomarker; genomics; microarray; next-generation sequencing; phenomics; precision medicine