English

Abstract

Many NGS analysis tools focusing on read alignment and variant calling functions for exome sequencing data have been developed in recent years. However, publicly available tools dealing with the downstream analysis of genome-wide variants are fewer and have limited functionality. We developed SNPAAMapper, a novel variant analysis pipeline that can effectively classify variants by region (e.g. CDS, UTRs, intron, upstream, downstream), predict amino acid change type (e.g. synonymous, non-synonymous mutation), and prioritize mutation effects (e.g. CDS versus UTRs). Additional functionality afforded by our pipeline includes: checking variants at exon/intron junctions, customized homozygosity and allele frequency cutoff parameters, and annotation of known variants with dbSNP information, listing original and mutated amino acid sequences containing variants. The final result is reported in a spreadsheet format table containing all variant associated information and prioritized amino acids effects for investigators to examine.AvailabilityPerl scripts and required input files are available on the web at http://www.ccmb.med.umich.edu/ccdu /SNPAAMapper.