There are an estimated 6000-8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. This article will first comment on the effectiveness of NGS through the lens of long-tailed economics. We then provide an overview of recent developments and challenges of NGS-based research on rare diseases. As the quality of NGS studies improve and the cost of sequencing decreases, NGS will continue to make a significant impact on the study of rare diseases moving forward.

中文翻译：

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长尾和罕见疾病研究：下一代测序对罕见孟德尔疾病的影响。


据估计，美国有 6000-8000 种罕见的孟德尔疾病，总共影响着 3000 万人。这些疾病的低发病率和患病率对改进诊断和治疗提出了重大挑战。新一代测序 (NGS) 技术彻底改变了罕见疾病的研究。本文将首先从长尾经济学的角度评论NGS的有效性。然后，我们概述了基于 NGS 的罕见疾病研究的最新进展和挑战。随着NGS研究质量的提高和测序成本的降低，NGS将继续对罕见疾病的研究产生重大影响。