The sequencing of personal genomes enabled analysis of variation in transcription factor (TF) binding, chromatin structure, and gene expression and indicated how they contribute to phenotypic variation. It is hypothesized that using the reference genome for mapping ChIP-seq or RNA-seq reads may introduce errors, especially at polymorphic genomic regions.
Researchers at the University of Illinois at Urbana-Champaign have developed a Personal Genome Editor (perEditor) that changes the reference human genome (NCBI36/hg18) into an individual genome, taking into account single nucleotide polymorphisms (SNPs), insertions and deletions, copy number variation, and chromosomal rearrangements. perEditor outputs two alleles (maternal, paternal) of the individual genome that is ready for mapping ChIP-seq and RNA-seq reads, and enabling the analyses of allele specific binding, chromatin structure, and gene expression.
AVAILABILITY: perEditor is available at http://biocomp.bioen.uiuc.edu/perEditor.
- Rivas-Astroza M, Xie D, Cao X, Zhong S. (2011) Mapping personal functional data to personal genomes. Bioinformatics [Epub ahead of print]. [abstract]