TY - JOUR
T1 - Mapping personal functional data to personal genomes
AU - Rivas-Astroza, Marcelo
AU - Xie, Dan
AU - Cao, Xiaoyi
AU - Zhong, Sheng
PY - 2011/12
Y1 - 2011/12
N2 - Motivation: 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.Results: We 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.
AB - Motivation: 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.Results: We 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.
UR - http://www.scopus.com/inward/record.url?scp=83355177230&partnerID=8YFLogxK
U2 - 10.1093/bioinformatics/btr578
DO - 10.1093/bioinformatics/btr578
M3 - Article
C2 - 22006915
AN - SCOPUS:83355177230
SN - 1367-4803
VL - 27
SP - 3427
EP - 3429
JO - Bioinformatics
JF - Bioinformatics
IS - 24
M1 - btr578
ER -