Single nucleotide polymorphisms (SNPs) have been associated with many aspects of human development and disease, and many non-coding SNPs associated with disease risk are presumed to affect gene regulation. We have previously shown that SNPs within transcription factor binding sites can affect transcription factor binding in an allele-specific and heritable manner. However, such analysis has relied on prior whole-genome genotypes provided by large external projects such as HapMap and the 1000 Genomes Project. This requirement limits the study of allele-specific effects of SNPs in primary patient samples from diseases of interest, where complete genotypes are not readily available.
Ni, Y., Weber Hall, A., Battenhouse, A., & Iyer, V. R. (2012). Simultaneous SNP identification and assessment of allele-specific bias from ChIP-seq data. BMC Genetics, 13. https://doi.org/10.1186/1471-2156-13-46