Lappalainen Tuuli
New York Genome Center, New York, New York 10013, USA; Department of Systems Biology, Columbia University, New York, New York 10032, USA.
Genome Res. 2015 Oct;25(10):1427-31. doi: 10.1101/gr.190983.115.
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.
深入了解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解读基因组的调控密码变得越来越重要。在本文中,我将探讨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研究中吸取的经验教训以及该领域未来面临的挑战。