Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. Li, X., Battle, A., Karczewski, K. J., Zappala, Z., Knowles, D. A., Smith, K. S., Kukurba, K. R., Wu, E., Simon, N., & Montgomery, S. B. American Journal of Human Genetics, 95(3):245–56, Elsevier, 2014.
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. [link]Paper  doi  bibtex   

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