Abstract
BackgroundSingle-feature polymorphism (SFP) discovery is a rapid and cost-effective approach to identify DNA polymorphisms. However, high false positive rates and/or low sensitivity are prevalent in previously described SFP detection methods. This work presents a new computing method for SFP discovery.ResultsThe probe affinity differences and affinity shape powers formed by the neighboring probes in each probe set were computed into SFP weight scores. This method was validated by known sequence information and was comprehensively compared with previously-reported methods using the same datasets. A web application using this algorithm has been implemented for SFP detection. Using this method, we identified 364 SFPs in a barley near-isogenic line pair carrying either the wild type or the mutant uniculm2 (cul2) allele. Most of the SFP polymorphisms were identified on chromosome 6H in the vicinity of the Cul2 locus.ConclusionThis SFP discovery method exhibits better performance in specificity and sensitivity over previously-reported methods. It can be used for other organisms for which GeneChip technology is available. The web-based tool will facilitate SFP discovery. The 364 SFPs discovered in a barley near-isogenic line pair provide a set of genetic markers for fine mapping and future map-based cloning of the Cul2 locus.
Highlights
Single-feature polymorphism (SFP) discovery is a rapid and cost-effective approach to identify DNA polymorphisms
Method development Our single-feature polymorphism (SFP) detection method, called the probe affinity shape power (PASP) method, is composed of two steps
Among the 263 SFP probe sets containing 364 SFPs discovered between Bowman-cul2 and Bowman, we found map information for probe sets that correspond to 91 probe sets (Additional file 7) containing 133 SFPs
Summary
Single-feature polymorphism (SFP) discovery is a rapid and cost-effective approach to identify DNA polymorphisms. The resequencing Genome-Wide Human SNP Array 6.0 [12] contains 906,600 potential SNPs that can be used to detect polymorphisms in individuals. This oligonucleotide resequencing array can only be developed for those species, such as human, mouse, Arabidopsis, and rice (O. sativa), whose genome sequences and the SNP map information are known [9,10,11,12,13]. Because of technology gaps and cost there is a lack of highly-parallel, high-throughput platforms for directly detecting DNA polymorphisms in many other species
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