SYZYGY

Record added by Jurg Ott (the original Rockefeller list)

Description

Syzygy is a targeted sequencing post processing analysis tool that allows: 1. SNP and indel detection; 2. Allele frequency estimation; 3. Single-marker association test; 4. Group-wise marker test association; 5. Experimental QC summary (%dbSNP, Ts/Tv, Ns/S); 6. Power to detect variant.

URL

http://www.broadinstitute.org/software/syzygy/

Reference

Rivas et al. (2011), “Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease”, Nature Genetics, in press.