Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease

@inproceedings{Odhams2017ProfilingRA,
  title={Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease},
  author={Christopher A. Odhams and Deborah S Cunninghame Graham and Timothy J Vyse},
  booktitle={PLoS genetics},
  year={2017}
}
Genome-wide association studies have identified hundreds of risk loci for autoimmune disease, yet only a minority (~25%) share genetic effects with changes to gene expression (eQTLs) in immune cells. RNA-Seq based quantification at whole-gene resolution, where abundance is estimated by culminating expression of all transcripts or exons of the same gene, is likely to account for this observed lack of colocalisation as subtle isoform switches and expression variation in independent exons can be… CONTINUE READING

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