Functional genomics bridges the gap between quantitative genetics and molecular biology.
Functional genomics bridges the gap between quantitative genetics and molecular biology.
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DOI：
10.1101/gr.190983.115
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发表时间：
2015-10
期刊：
影响因子：
7
通讯作者：
Lappalainen T
中科院分区：
文献类型：
--
作者：
Lappalainen T
深入表征人类基因组中遗传变异的分子功能对于理解遗传与疾病的关联以及学习解读基因组的调控密码变得越来越重要。在本文中，我讨论了数量遗传学和分子生物学的最新进展如何有助于理解遗传变异的功能效应，从eQTL研究中吸取的教训，以及该领域未来的挑战。
Deep characterization of molecular function of genetic variants in the human genome is becoming increasingly important for understanding genetic associations to disease and for learning to read the regulatory code of the genome. In this paper, I discuss how recent advances in both quantitative genetics and molecular biology have contributed to understanding functional effects of genetic variants, lessons learned from eQTL studies, and future challenges in this field.