パッケージ: soapsnp (1.03-4)

resequencing utility that can assemble consensus sequence of genomes

For getting ideas on the cause of diseases or their response to therapy, and for understanding either for a particular patient, doctors around the globe are starting to look at the genes or the whole genome and how that sequence is different from a healthy / well responding individual.

SOAPsnp is a member of the SOAP (Short Oligonucleotide Analysis Package). The program is a resequencing utility. It assembles the consensus sequence for the genome of a newly sequenced individual based on the alignment of the raw sequencing reads on a known reference. SNPs can then be identified on the consensus sequence through the comparison with the reference.

SOAPsnp uses a method based on Bayes' theorem (the reverse probability model) to call consensus genotype by carefully considering the data quality, alignment, and recurring experimental errors. All these kinds of information was integrated into a single quality score for each base in PHRED scale to measure the accuracy of consensus calling. Currently, it supports the alignment format of SOAPaligner (soap2).

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