Chromosome arm loss and --maxhomozygousloss default
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twtoal ▴ 10
@twtoal-15473
Last seen 4 months ago
United States

I see that the default value for the PureCN.R --maxhomozygousloss option is 0.05,1e+07.  Does this mean that if entire chromosome arms are lost, they must not total more than 5% of the genome?  

 

Purecn maxhomozygousloss • 1.0k views
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@markusriester-9875
Last seen 2.4 years ago
United States

It means that homozygous losses are not accepted in the optimization when the corresponding segment is larger than 10Mb or when more than 5% of a chromosome (whole chromosome, not arm) is completely lost. This is mainly to avoid wrong solutions where a complete chromosome is assigned to a homozygous loss state.

The default is calibrated for medium sized panels. With small panels, MTAP/CDKN2A deletions might exceed this cutoff if you have only few other genes surrounding them and you might want to increase. Future versions might be a bit smarter here, see https://github.com/lima1/PureCN/issues/50.

 

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