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CNV calling from 10X 5 prime GEX data #193

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cv55 opened this issue Jun 14, 2024 · 2 comments
Open

CNV calling from 10X 5 prime GEX data #193

cv55 opened this issue Jun 14, 2024 · 2 comments

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@cv55
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cv55 commented Jun 14, 2024

Hello,

I have been using Numbat for quite sometime now, and it has worked great. Recently we switched to the 5' 10X protocol. Numbat fails to correctly identify the CNVs, and in all samples i keep getting an amplification on chromosomes 16 and 19 (which is prone to false positives anyway) , which is not correct.

Is this something you have been aware of? Could the 5' affect the performance of the tool so much?

@teng-gao
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Hello, it shouldn't make that big a difference. If the normal expression reference is from 3' and you're analyzing a 5'-sequenced tumor sample that might cause more noise.

@DarioS
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DarioS commented Jul 19, 2024

Also, we have had trouble with whole genome duplicated samples and are quietly hoping for a Numbat update. Is there any difference in W.G.D. rate between batches if you have matched whole-genome sequencing data to cross-check? If you look at my heatmap, all of the samples with inferred chr16 amplification by Numbat have W.G.D. and disagree with W.G.S.

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