8
|
1 BACKGROUND:
|
|
2
|
|
3 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.
|
|
4
|
|
5 METHOD:
|
|
6
|
|
7 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).
|
|
8
|
|
9 LIMITATION:
|
|
10
|
|
11 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.
|
|
12
|
|
13 Any feedback is welcome
|
|
14
|
|
15
|
|
16 INSTALLATION:
|
|
17
|
|
18 After installation, complete the dbsnp.loc and dc_genotyper_indexes.loc files. The DC_genotyper_indexes.loc file has a specific format, specifying two index files per genome in a single line. Make sure you use comma to seperate these. DCG supports multithreading, but keep tests have shown that using more than 6-8 threads will lead to I/O bottlenecks.
|