Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, Geneva 1211, Switzerland.
Hum Mol Genet. 2012 Oct 15;21(R1):R24-8. doi: 10.1093/hmg/dds383. Epub 2012 Sep 12.
Much of the recent advances in functional genomics owe to developments in next-generation sequencing technology, which has contributed to the exponential increase of genomic data available for different human disease and population samples. With functional sequencing assays available to query both the transcriptome and the epigenome, annotation of the non-coding, regulatory genome is steadily improving and providing means to interpret the functional consequences of genetic variants associated with human complex traits. This has highlighted the need to better understand the normal variation in various cellular phenotypes, such as epigenetic modifications, and their transgenerational inheritance. In this review, we discuss different aspects of epigenetic variation in the context of DNA sequence variation and its contribution to complex phenotypes.
近年来，功能基因组学的许多进展都归功于下一代测序技术的发展，该技术为不同人类疾病和人群样本的基因组数据的指数级增长做出了贡献。随着功能测序分析可用于查询转录组和表观基因组，非编码调节基因组的注释也在稳步改进，为解释与人类复杂特征相关的遗传变异的功能后果提供了手段。这凸显了需要更好地了解各种细胞表型（如表观遗传修饰）的正常变异及其跨代遗传。在这篇综述中，我们讨论了 DNA 序列变异背景下的表观遗传变异的不同方面及其对复杂表型的贡献。
