Ultrarare variants drive substantial cis heritability of human gene expression
Author:
Funder
U.S. Department of Health & Human Services | National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/s41588-019-0487-7.pdf
Reference53 articles.
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2. Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011).
3. Zhao, J. et al. A burden of rare variants associated with extremes of gene expression in human peripheral blood. Am. J. Hum. Genet. 98, 299–309 (2016).
4. Montgomery, S. B., Lappalainen, T., Gutierrez-Arcelus, M. & Dermitzakis, E. T. Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet. 7, e1002144 (2011).
5. Yang, J. et al. Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. Nat. Genet. 47, 1114–1120 (2015).
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