Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes

Open Access

Peer-reviewed

Research Article

Stephen B. Montgomery ,

* E-mail: stephen.montgomery@unige.ch (SBM); emmanouil.dermitzakis@unige.ch (ETD)

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
⨯
Tuuli Lappalainen,

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
⨯
Maria Gutierrez-Arcelus,

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
⨯
Emmanouil T. Dermitzakis

* E-mail: stephen.montgomery@unige.ch (SBM); emmanouil.dermitzakis@unige.ch (ETD)

Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
⨯

Reader Comments

For RNA-Seq data, we calculated associations per exon by quantifying the number of reads overlapping known exon annotation for each individual and then performing Spearman rank correlation with respect to corresponding genotypes as previously reported [15].
http://plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002144#article1.body1.sec4.sec3.p1

Dataset S1: http://www.plosgenetics.org/corrections/pgen.1002144.s022.cn.txt.gz

No competing interests declared.

Haplotypes
Is the Subject Area "Haplotypes" applicable to this article?

Thanks for your feedback.
Single nucleotide polymorphisms
Is the Subject Area "Single nucleotide polymorphisms" applicable to this article?

Thanks for your feedback.
Genomics
Is the Subject Area "Genomics" applicable to this article?

Thanks for your feedback.
Alleles
Is the Subject Area "Alleles" applicable to this article?

Thanks for your feedback.
Heterozygosity
Is the Subject Area "Heterozygosity" applicable to this article?

Thanks for your feedback.
Gene expression
Is the Subject Area "Gene expression" applicable to this article?

Thanks for your feedback.
Gene regulation
Is the Subject Area "Gene regulation" applicable to this article?

Thanks for your feedback.
RNA sequencing
Is the Subject Area "RNA sequencing" applicable to this article?

Thanks for your feedback.