SNVer is a statistical tool for calling common and rare variants in analysis of pool or individual next-generation sequencing data. It reports one single overall p-value for evaluating the significance of a candidate locus being a variant, based on which multiplicity control can be obtained. Loci with any (low) coverage can be tested and depth of coverage will be quantitatively factored into final significance calculation. SNVer runs very fast, making it feasible for analysis of whole-exome sequencing data, or even whole-genome sequencing data.

Getting Started

Installation


The latest version of SNVer is available here: SNVer Download, then unzip:
tar zxvf SNVer-x.x.x.tar.gz

Prepare a reference for testing


The toy data are generated from a real dataset from chrX.
So download chrX from UCSC,
wget http://hgdownload.cse.ucsc.edu/goldenPath/hg19/chromosomes/chrX.fa.gz

then unzip it for the following testing:
gunzip chrX.fa.gz

Test for pooled sequencing data


Run the following command:
java -jar SNVerPool.jar -i test/bam/ -c test/test.ini
-r chrX.fa -l test/target.bed -o test_pool -t 0


If successful, you should see the following:

Ready for Pool Pileup... 
Input Bam Directory is : test/bam/
Output Result File is : test_pool.raw.vcf
test1:HAPLOIDS[2]MQ[17]BQ[30]
test2:HAPLOIDS[2]MQ[20]BQ[20]
The p-value cutoff (method: bonferroni=0.05) is 1.1148272017837236E-5
Filtered Output Result File is : test_pool.filter.vcf
Time usage is 5 seconds
Done!

Then you will get a list of p values for each loci in VCF 4.0 format, see more details about output in Manual.

Test for individual sequencing data


Run the following command:
java -jar SNVerIndividual.jar -i test/bam/test1.bam -o test_individual
-r chrX.fa -l test/target.bed


If successful, you should see the following:

Ready for Pileup... 
Input Bam File is : test/bam/test1.bam
Output Result File is : test_individual.raw.vcf
The p-value cutoff (method: bonferroni=0.05) is 1.1606313834726092E-5
Filtered Output Result File is : test_individual.filter.vcf
Time usage is 4 seconds
Done!

Also see more details about output in Manual.