SNP and INDEL Detection Module

摘要

A new module for NextGENe software is designed for use with the Roche Applied Science Genome Sequencer FLX System to identify single nucleotide polymorphisms (SNPs) and sequence insertionsrnand deletions (INDELs). The module addresses the homopolymer-based errors of the FLX system by making use of the system's high coverage to statistically polish and correct the inherent system errors. NextGENe's alignment tool can accurately align reads with long INDELs and identify them as mutations. Another detection application can identify SN Ps by accurately aligning sample reads with a reference. The sequence alignment tool also provides information about amino acid changes, exon-intron boundaries, copy numbers, and methylation sites.