PineSAP—sequence alignment and SNP identification pipeline
Open Access
- 10 August 2009
- journal article
- research article
- Published by Oxford University Press (OUP) in Bioinformatics
- Vol. 25 (19) , 2609-2610
- https://doi.org/10.1093/bioinformatics/btp477
Abstract
Summary: The Pine Alignment and SNP Identification Pipeline (PineSAP) provides a high-throughput solution to single nucleotide polymorphism (SNP) prediction using multiple sequence alignments from re-sequencing data. This pipeline integrates a hybrid of customized scripting, existing utilities and machine learning in order to increase the speed and accuracy of SNP calls. The implementation of this pipeline results in significantly improved multiple sequence alignments and SNP identifications when compared with existing solutions. The use of machine learning in the SNP identifications extends the pipeline's application to any eukaryotic species where full genome sequence information is unavailable. Availability: All code used for this pipeline is freely available at the Dendrome project website (http://dendrome.ucdavis.edu/adept2/resequencing.html) Contact:jlwegrzyn@ucdavis.eduKeywords
This publication has 12 references indexed in Scilit:
- Genomics to tree breeding and forest healthCurrent Opinion in Genetics & Development, 2007
- DNA reference alignment benchmarks based on tertiary structure of encoded proteinsBioinformatics, 2007
- Application of machine learning in SNP discoveryBMC Bioinformatics, 2006
- SNP discovery using advanced algorithms and neural networksBioinformatics, 2005
- ProbCons: Probabilistic consistency-based multiple sequence alignmentGenome Research, 2005
- Heterogeneity detector: finding heterogeneous positions in Phred/Phrap assembliesBioinformatics, 2004
- A general approach to single-nucleotide polymorphism discoveryNature Genetics, 1999
- Base-Calling of Automated Sequencer Traces UsingPhred. I. Accuracy AssessmentGenome Research, 1998
- Consed: A Graphical Tool for Sequence FinishingGenome Research, 1998
- PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencingNucleic Acids Research, 1997