作者
Alexis Battle, Sara Mostafavi, Xiaowei Zhu, James B Potash, Myrna M Weissman, Courtney McCormick, Christian D Haudenschild, Kenneth B Beckman, Jianxin Shi, Rui Mei, Alexander E Urban, Stephen B Montgomery, Douglas F Levinson, Daphne Koller
发表日期
2013/10/3
期刊
Genome research
出版商
Cold Spring Harbor Lab
简介
Understanding the consequences of regulatory variation in the human genome remains a major challenge, with important implications for understanding gene regulation and interpreting the many disease-risk variants that fall outside of protein-coding regions. Here, we provide a direct window into the regulatory consequences of genetic variation by sequencing RNA from 922 genotyped individuals. We present a comprehensive description of the distribution of regulatory variation—by the specific expression phenotypes altered, the properties of affected genes, and the genomic characteristics of regulatory variants. We detect variants influencing expression of over ten thousand genes, and through the enhanced resolution offered by RNA-sequencing, for the first time we identify thousands of variants associated with specific phenotypes including splicing and allelic expression. Evaluating the effects of both long …
引用总数
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