Ontology highlight
ABSTRACT: Motivation
Sequencing-based assays such as ChIP-seq, DNase-seq and MNase-seq have become important tools for genome annotation. In these assays, short sequence reads enriched for loci of interest are mapped to a reference genome to determine their origin. Here, we consider whether false positive peak calls can be caused by particular type of error in the reference genome: multicopy sequences which have been incorrectly assembled and collapsed into a single copy.Results
Using sequencing data from the 1000 Genomes Project, we systematically scanned the human genome for regions of high sequencing depth. These regions are highly enriched for erroneously inferred transcription factor binding sites, positions of nucleosomes and regions of open chromatin. We suggest a simple masking procedure to remove these regions and reduce false positive calls.Availability
Files for masking out these regions are available at eqtl.uchicago.edu
SUBMITTER: Pickrell JK
PROVIDER: S-EPMC3137225 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Pickrell Joseph K JK Gaffney Daniel J DJ Gilad Yoav Y Pritchard Jonathan K JK
Bioinformatics (Oxford, England) 20110619 15
<h4>Motivation</h4>Sequencing-based assays such as ChIP-seq, DNase-seq and MNase-seq have become important tools for genome annotation. In these assays, short sequence reads enriched for loci of interest are mapped to a reference genome to determine their origin. Here, we consider whether false positive peak calls can be caused by particular type of error in the reference genome: multicopy sequences which have been incorrectly assembled and collapsed into a single copy.<h4>Results</h4>Using sequ ...[more]