Mercurial > repos > geert-vandeweyer > dc_genotyper
view readme.rst @ 1:15be98f10c13 draft
change to readme file regarding the loc files.
| author | geert-vandeweyer |
|---|---|
| date | Thu, 25 Sep 2014 05:27:45 -0400 |
| parents | e8a32d824f39 |
| children |
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BACKGROUND: DC_Genotyper stands for Deep-Coverage Genotyper, and is aimed at detecting low fraction SNPs (no indels) in high-ploidy (or pooled) samples with very high coverage. It is being developed at the University of Antwerp by Geert Vandeweyer. METHOD: DC_Genotyper generates a background noise distributions on a per-sample basis, and uses these distrubutions to detect non-reference sites. For non-reference sites, Allele-specific distributions are used to estimate if an allele surpasses the background signal (e.g. A_to_G has different distribution as A_to_C, also reflected in Tr/Tv ratios). LIMITATION: This is a very early version with several limitations. Current limitations are : no support for indels, no plotting of the noise-models, incorrect syntax in for multi-allelic sites in the VCF file. Any feedback is welcome INSTALLATION: After installation, complete the dbsnp.loc and dc_genotyper_indexes.loc files. DCG supports multithreading, but keep tests have shown that using more than 6-8 threads will lead to I/O bottlenecks.