Running ASCAT without matched normal sample
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12 months ago
Riccardo ▴ 10

Hello!

I am trying to run ASCAT for Copy Number Analysis on tumour NGS-sequenced data. However, the samples do not have their matched normal. Is there a way to overcome this limitation and obtain a meaningful segmentation with ASCAT? I thought of creating a pooled reference germline sample. However, I think that this would lead to some problems, especially for the B-allele frequency signal. Thanks in advance!

ASCAT BAF CNV • 359 views
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