Syzygy
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Application data |
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| Created by | Manuel A. Rivas and Mark J. Daly |
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| Biological application domain(s) | SNP discovery, InDel discovery |
| Created at | Broad Institute |
| Maintained? | Yes |
| Input format(s) | BAM |
| Output format(s) | Various |
| Programming language(s) | Python, R |
Summary: Software to identify variants from pooled sequencing data
Description
Syzygy is a targeted sequencing post processing analysis tool that allows:
Rare variant SNP detection; Allele frequency estimation; Single-marker association test; Group-wise marker test association; Experimental QC summary (%dbSNP, Ts/Tv, Ns/S); Power to detect variant.
Documentation seems to indicate that Syzygy works for either indexed/barcoded or non-indexed (where individual-of-origin is not known for reads) pooled samples.
Links
References
- Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK.. 2010. Nature Genetics
- Rivas, M.A., et al. 2011. Nature Genetics
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