Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK, and the Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX7 7BN, UK.
Genome Med. 2009 Jul 3;1(7):66. doi: 10.1186/gm66.
Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to disease. Extending explained genetic variance is one of the major near-term goals of human genetic research. Next-generation sequencing technologies offer great promise, but optimal strategies for their deployment remain uncertain, not least because we lack a clear view of the characteristics of the variants being sought. Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies.
鉴定许多常见疾病的常见变异关联非常有效，但迄今为止检测到的基因座通常只解释了疾病遗传易感性的一小部分。扩展可解释的遗传变异是人类遗传研究的主要近期目标之一。下一代测序技术具有很大的潜力，但它们的最佳部署策略仍不确定，尤其是因为我们对正在寻找的变异特征缺乏清晰的认识。在这里，我将讨论从目前可用的信息中可以和不能推断出复杂特征疾病结构的内容，并回顾对未来研究策略的影响。
