The role of regulatory variation in complex traits and disease

By F. W. Albert, Leonid Kruglyak. Nature reviews genetics, 2015

1,003 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/5b3841e147e3196f14e2f6212bd95398d6190224

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Citations in the corpus

Integrative omics for health and disease (2018, neutral): “37 ).”
Genomic atlas of the human plasma proteome (2018, methodology): “Prior to genetic association testing, variants were filtered in each subcohort separately using the following exclusion criteria: (1) imputation quality (INFO) score<0.”
Revealing the vectors of cellular identity with single-cell genomics (2016, background): “For example, the framework of expression quantitative trait loci (eQTLs 225 ) can be re-cast in single-cell analysis 175 , where every cell is now an individual, and dependencies between single-cell genome variants and transcriptome variation allow inferring causality from the former to the latter.”
R/qtl2: Software for Mapping Quantitative Trait Loci with High-Dimensional Data and Multiparent Populations (2018, positive): “…the mapping of quantitative trait loci (QTL) in experimental organisms, spurred in part by the use of gene expression phenotypes [eQTL mapping; see Albert and Kruglyak (2015)] to more rapidly identify the underlying genes, and by the development of multiparent populations (de Koning and McIntyre…”
10 Years of GWAS Discovery: Biology, Function, and Translation. (2017, background): “Until recently, efforts to understand the biological mechanisms through which these various risk variants act have been thwarted by limitations in the capacity to perform large-scale evaluation of functional impact.(66) The advent of sequence-based -omic analyses have been transformative by allowing”
The Post-GWAS Era: From Association to Function. (2018, methodology): “After employing these and other statistical methods, fine-mapped daVs can be investigated for association with gene expression levels in many cell and tissue types, using publicly available eQTL data.(17) While studies integrating GWASs and eQTL data have reported that nearly half of all daVs are as”