freeseek / mocha

MOsaic CHromosomal Alterations (MoChA) caller
MIT License
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Issues with the number of heterozygous sites #25

Closed katharineqn closed 2 years ago

katharineqn commented 2 years ago

Hi, we have encountered some problems with counting the number of heterozygous sites at the final step of MoChA (Version 1.14-20220112).

Take chr1 as an example, when we combined all samples (~450,000) in one bcf file for analysis, only about ten heterozygous sites can be counted (as shown in the n_hets column) and used for the following analyses. However, the number of n_hets increases greatly when we split the combined bcf file and included only 10,000 samples or even 100 samples for analysis.

I cannot figure out the problem, and there is no error message. Could you please give me some suggestions for dealing with this?

Thanks.