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Editorial
. 2015 Oct;35(10):2079-2080.
doi: 10.1161/ATVBAHA.115.306366.

From Locus Association to Mechanism of Gene Causality: The Devil Is in the Details

Clint L Miller #  1 , Milos Pjanic #  1 , Thomas Quertermous  1
Affiliations
Editorial

From Locus Association to Mechanism of Gene Causality: The Devil Is in the Details

Clint L Miller et al. Arterioscler Thromb Vasc Biol. 2015 Oct.
No abstract available

Keywords: alleles; amino acids; binding sites; single nucleotide polymorphism; transcription factors.

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Figures

Figure
Figure
Comprehensive experimental approach to identification and study of causal variation and causal genes in CAD GWA study loci. Initial studies investigate the causal variant which is usually required to identify the causal gene. The gray box highlights the analyses used by Braenne et al to identify causal variants and genes. Abbreviations: DNase, DNase 1 hypersensitivity method to identify open chromatin; 3H, chromosomal conformation capture; HiC, high-throughput adaptation of 3C; ChIP, chromatin immunoprecipitation; HaploChIP, differential ChIP and comparison of binding on two alleles; CRISPRs, (clustered regularly interspaced short palindromic repeats), system for genome editing; GOF, gain of function; LOF, loss of function; RNA-Seq, high-throughput sequencing of RNA to identify differential gene expression.
See this image and copyright information in PMC

Comment on

  • Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.
    Brænne I, Civelek M, Vilne B, Di Narzo A, Johnson AD, Zhao Y, Reiz B, Codoni V, Webb TR, Foroughi Asl H, Hamby SE, Zeng L, Trégouët DA, Hao K, Topol EJ, Schadt EE, Yang X, Samani NJ, Björkegren JL, Erdmann J, Schunkert H, Lusis AJ; Leducq Consortium CAD Genomics‡. Brænne I, et al. Arterioscler Thromb Vasc Biol. 2015 Oct;35(10):2207-17. doi: 10.1161/ATVBAHA.115.306108. Epub 2015 Aug 20. Arterioscler Thromb Vasc Biol. 2015. PMID: 26293461 Free PMC article.

References

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