R10K update: NGS of immune repertoire for biomarker discoveries (P3241)

Abstract

Abstract The natural duty of the adaptive immune system is to detect any internal and external threats and mount specific and measured reactions accordingly. Therefore, the immune repertoire is rich in specific diagnostic markers. We have developed a novel multiplex PCR method, which can amplify the CDR3 regions from a sample inclusively and semi-quantitatively. The PCR products can be sequenced directly with different next generation sequencing platforms. A software package was developed to filter out amplification and sequencing errors, identify CDR3 sequences and perform routine repertoire analysis. The R10K project (www.R10K.org) is organized and supported by the HudsonAlpha Institute for Biotechnology, a nonprofit research institute specialized in genomic research. The project is an international collaborative effort to sequence 10,000 samples and study 100 diseases. Our pilot studies have demonstrated that disease specific repertoire changes can be detected. Quantitatively, the changes in repertoire diversity can be used as a biomarker for disease staging and measuring treatment response. Qualitatively, detection of disease specific CDR3s can be used for early diagnosis of diseases, including cancer, autoimmune diseases, inflammatory diseases, and infectious diseases. The R10K project is open to collaborators; the IP rights are shared among collaborators, participating institutions and companies. The data will be publicly available as each study is completed.