Article
SNPhood: investigate, quantify and visualise the epigenomic neighbourhood of SNPs using NGS data.
Bioinformatics (Oxford, England) - 1 Aug 2016
Arnold Christian, Bhat Pooja, Zaugg Judith B
Abstract excerpt
MOTIVATION: The vast majority of the many thousands of disease-associated single nucleotide polymorphisms (SNPs) lie in the non-coding part of the genome. They are likely to affect regulatory elements, such as enhancers and promoters, rather than the function of a protein. To understand the molecular mechanisms underlying genetic diseases, it is therefore increasingly important to study the effect of a SNP on...
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