SNPhood:SNPhood: Investigate, quantify and visualise the epigenomic
neighbourhood of SNPs using NGS data
To date, thousands of single nucleotide polymorphisms (SNPs) have been found to be associated with complex traits and
diseases. However, the vast majority of these
disease-associated SNPs lie in the non-coding part of the
genome, and are likely to affect regulatory elements, such as
enhancers and promoters, rather than function of a protein.
Thus, to understand the molecular mechanisms underlying genetic
traits and diseases, it becomes increasingly important to study
the effect of a SNP on nearby molecular traits such as
chromatin environment or transcription factor (TF) binding.
Towards this aim, we developed SNPhood, a user-friendly
*Bioconductor* R package to investigate and visualize the local
neighborhood of a set of SNPs of interest for NGS data such as
chromatin marks or transcription factor binding sites from
ChIP-Seq or RNA- Seq experiments. SNPhood comprises a set of
easy-to-use functions to extract, normalize and summarize reads
for a genomic region, perform various data quality checks,
normalize read counts using additional input files, and to
cluster and visualize the regions according to the binding
pattern. The regions around each SNP can be binned in a
user-defined fashion to allow for analysis of very broad
patterns as well as a detailed investigation of specific
binding shapes. Furthermore, SNPhood supports the integration
with genotype information to investigate and visualize
genotype-specific binding patterns. Finally, SNPhood can be
employed for determining, investigating, and visualizing
allele-specific binding patterns around the SNPs of interest.