The impact of rare variation on gene expression across tissues

Xin Li,Yungil Kim,Emily K. Tsang,Joe R. Davis,Farhan N. Damani,Colby Chiang,Gaelen T. Hess,Zachary Zappala,Benjamin J. Strober,Alexandra J. Scott,Amy Li,Andrea Ganna,Michael C. Bassik,Jason D. Merker,François Aguet,Ira M. Hall,Alexis Battle,Stephen B. Montgomery

Nature（2017）

引用 230|浏览1

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摘要

The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

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关键词

Data integration,DNA sequencing,Gene expression,Gene expression profiling,RNA sequencing,Science,Humanities and Social Sciences,multidisciplinary

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