摘要视角:高吞吐量核苷酸测序的现状风湿病学

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“精密药物”的目的是通过考虑包括个体分子概况的患者的个性,开发新的诊断,预防和治疗策略。The development of high throughput sequencing (HTS) platforms, collectively still called ‘next-generation sequencing’ (NGS), in conjunction with non-invasive profiling strategies, including ‘liquid biopsies’, allow one to obtain information about a disease state or response to treatment using, for example, blood from patients, followed by HTS profiling and subsequent bioinformatic analysis. While this concept is already implemented in oncology, its adoption in rheumatology has not been quantified yet. In this paper, we i) argue here that HTS offers enormous potential to pave the way to personalized therapy for patients with rheumatic diseases, particularly due to its extreme molecular and phenotypic heterogeneity, and ii) review both the literature using HTS and public HTS datasets in rheumatological diseases to quantify the adoption of this technology in rheumatology.

- 学习作者Boegel博士