Two major annotation package available to test are Annovar and Ensembl’s VEP
Need to test/compare which one is suitable for us
Kick-off meeting on 01/09/2012,
Download EVS database at NHLBI web portal
The following downloadable files contain SNPs and coverage data for the ESP 5400 exomes (chromosomes 1-22, and X).
ESP5400.snps.txt.tar.gz (SNPs and annotations in space-delimited text format)
ESP5400.snps.vcf.tar.gz (SNPs and annotations in VCF format – same data as ESP5400.snps.txt.gz)
ESP5400.coverage.all_sites.txt.tar.gz (sequencing coverage data for every sites in our targets)
ESP5400.coverage.seq_blocks.txt.tar.gz (sequencing coverage summary data for every squencing block in our targets)