Genetic and epigenetic contribution to complex traits
Genetic and epigenetic contribution to complex traits
复制标题
DOI：
10.1093/hmg/dds383
复制
发表时间：
2012-10-15
影响因子：
3.5
通讯作者：
Dermitzakis, Emmanouil T.
中科院分区：
文献类型：
--
作者：
Kilpinen, Helena;Dermitzakis, Emmanouil T.
功能基因组学最近取得的许多进展归功于下一代测序技术的发展，该技术促进了用于不同人类疾病和人口样本的基因组数据的指数增长。随着转录组和表观基因组的功能测序技术的发展，非编码调控基因组的注释正在稳步改进，并为解释与人类复杂性状相关的遗传变异的功能后果提供了手段。这突出表明，需要更好地了解各种细胞表型的正常变异，如表观遗传修饰及其跨代遗传。在这篇综述中，我们讨论了DNA序列变异背景下表观遗传变异的不同方面及其对复杂表型的贡献。
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.